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50 results about "Truncated protein" patented technology

The truncated protein, the fusion protein, the conjugate, the pharmaceutical compositions and the vaccines can be used for preventing, relieving or treating rotavirus infection and diseases caused by rotavirus infection, for example, rotavirus gastroenteritis and diarrhea. Also disclosed are uses of the truncated protein,...

Zebrafish ifn f interferon truncated protein and its application in antibiosis

The application relates to the fields of biological medicine and aquaculture, and discloses a zebrafish IFNf interferon truncated protein and application thereof in antibiosis. The zebrafish interferon derivative peptide AMP-Z2 can specifically inhibit fungi. The interferon derivative peptide provided by the application is a host natural peptide, has small molecular weight, is simple to synthesize, has significant bactericidal effects on various bacteria and fungi, and can be used for preparing broad-spectrum antibacterial agents or antibacterial drugs.
Owner:INST OF AQUATIC LIFE ACAD SINICA

Riboflavin kinase / fmn adenosine transferase truncated protein and use thereof

PendingCN122465878AAdenosineMutant
The application belongs to the technical field of bioengineering, and particularly relates to application of a riboflavin kinase / FMN adenosine transferase truncated protein and a mutant thereof in FMN synthesis. The application obtains a mutant with improved riboflavin kinase enzyme activity by truncating and mutating RibFM-1, and uses the mutant in FMN production. The FMN yield of the strain containing the truncated protein gene is increased by 49.14%, 33.97%, 43.58%, 22.42%, 76.31% and 113.70% respectively compared with the strain containing the non-truncated gene. It can be seen that the riboflavin kinase / FMN adenosine transferase can significantly improve the yield of FMN after being truncated or mutated, and has a wide application potential in FMN industrial production.
Owner:TIANJIN UNIV

Recombinant human collagen type ii, method for producing the same, and use thereof

This patent application discloses a recombinant human type II collagen, its preparation method, and its uses. The recombinant human type II collagen of this patent application is a truncated protein of natural human type II collagen, and its amino acid sequence is shown in SEQ ID No: 1. The recombinant human type II collagen of this invention can be expressed in commercial expression systems such as the commercial Pichia pastoris expression system with high expression yields. Furthermore, its tested biological activities (promoting cell proliferation and wound healing) are significantly superior to those of natural human type II collagen, and also significantly superior to other stages of natural human type II collagen.
Owner:XIAN GIANT BIOGENE TECH CO LTD +1

A colloidal gold test strip for distinguishing between actinobacillus pleuropneumoniae wild virus infection and vaccine immunization and application thereof

The application discloses a colloidal gold test strip for distinguishing between wild toxin infection and vaccine immunization of porcine pleuropneumonia actinobacillus and application. The test strip of the application takes ApxIVA truncated protein with an amino acid sequence shown as SEQ ID NO. 3 as an antigen, the truncated protein can be soluble expressed in E. coli, and the structure and function of the truncated protein are close to those of natural apxIVA. The test strip of the application comprises a sample pad, a colloidal gold pad, an NC membrane, a water absorption filter paper and a bottom plate, the colloidal gold pad is coated with gold-labeled apxIVA truncated protein and gold-labeled chicken IgY antibody, and the C line and the T line of the NC membrane are fixed with goat anti-chicken IgY antibody and apxIVA truncated protein. The test strip only needs 25 muL of pig serum to make detection within 5-10 min, and can distinguish between APP wild strain infection and gene deletion vaccine APP-HB-04M immunized serum samples.
Owner:HUAZHONG AGRI UNIV

Anti-PRRSV (Porcine Reproductive and Respiratory Syndrome Virus) Nsp4 protein monoclonal antibody with inhibition effect and application thereof

The invention provides an anti-PRRSV (Porcine Reproductive and Respiratory Syndrome Virus) Nsp4 protein monoclonal antibody with an inhibition effect and application thereof, a hybridoma cell strain capable of stably secreting the anti-Nsp4 protein monoclonal antibody is prepared, and a new antigen epitope is identified in nsp4 through expressed overlapping truncated protein. Wherein the 123ITEAGELV130 identified by the monoclonal antibody 1C11 shows the potential of universally identifying different types of PRRSV (Porcine Reproductive and Respiratory Syndrome Virus). Meanwhile, expression of Nsp4 protein can be detected in the early stage of PRRSV infection by utilizing the monoclonal antibody 1C11, the monoclonal antibody has a blocking effect on PRRSV positive serum, and it is found that the monoclonal antibody 1C11 can inhibit proliferation of PRRSV in vitro. Research results increase the understanding of PRRSV Nsp4 protein structure and antigen characteristics, and provide a basis for PRRSV early antigen detection.
Owner:SHANGHAI VETERINARY RESEARCH INSTITUTE CAAS (CHINESE ANIMAL HEALTH & EPIDEMIOLOGY CENTER SHANGHAI BRANCH)

Adeno-associated variants, formulations and methods for pulmonary delivery

PendingJP2026032060ADispersion deliveryAerosol deliveryDiseasePneumonocyte
To provide adeno-associated variants, formulations and methods for pulmonary delivery.SOLUTION: The present disclosure provides variant AAV capsid proteins that confer tropism for lung cells, as well as recombinant adeno-associated viruses comprising the variant AAVs and pharmaceutical compositions comprising the same, and their use in the delivery of heterologous nucleic acids to lung cells for the treatment of lung disorders. (ii) nucleic acids comprising, from 5 ' to 3 ', (a) AAV2 terminal repeats, (b) a promoter, (c) a nucleotide sequence encoding a human cystic fibrosis transmembrane conductance regulator (CFTR) or a biologically active truncated CFTR lacking amino acids 708 to 759 of the human CFTR sequence, (d) a poly-adenylation sequence, and (e) AAV2 terminal repeats.SELECTED DRAWING: None
Owner:4D MOLECULAR THERAPEUTICS INC

Preparation and application of siniperca chuatsi infectious spleen and kidney necrosis subunit vaccine

PendingCN121041419AViral antigen ingredientsAntiviralsRenal necrosisTGE VACCINE
The invention provides a preparation method and application of a siniperca chuatsi infectious spleen and kidney necrosis virus subunit vaccine. Immunogen of the siniperca chuatsi infectious spleen and kidney necrosis virus subunit vaccine comprises capsid protein MCP of infectious spleen and kidney necrosis virus, envelope protein ORF007L and truncated protein of envelope protein ORF118L; wherein the amino acid sequence of the truncated protein of the capsid protein MCP is as shown in SEQ ID NO. 1; a gene sequence for editing the truncated protein is as shown in SEQ ID NO.4; the amino acid sequence of the truncated protein of the envelope protein ORF007L is as shown in SEQ ID NO. 2; the gene sequence for editing the truncated protein is as shown in SEQ ID NO.5; the amino acid sequence of the truncated protein of the envelope protein ORF118L is as shown in SEQ ID NO. 3; and the gene sequence for editing the truncated protein is as shown in SEQ ID NO.6.
Owner:山东锦鸿生态科技有限公司

Engineered nuclease and application thereof

The invention relates to the technical field of biology, in particular to engineered nuclease and application thereof, and particularly, nuclease with small protein molecular weight is obtained by optimizing a Cas protein structural domain. Through modification and optimization of a Cas protein structural domain, it is found that the truncated protein composed of PI, REC-I and WED structural domains at the N end of the V-type Cas protein can give play to the activity of nuclease, and a new path and a new research direction are provided for development and application of nuclease.
Owner:SOUTHERN UNIVERSITY OF SCIENCE AND TECHNOLOGY

Myelin oligodendrocyte glycoprotein, myelin basic protein, and proteolipid protein compositions and methods of use

Disclosed is a protein comprising no more than three human autoantigenic proteins, wherein a first human autoantigenic protein comprises a truncated myelin oligodendrocyte glycoprotein (MOG) amino acid sequence, a second human autoantigenic protein comprises a myelin basic protein (MBP) amino acid sequence, and a third human autoantigenic protein comprises a truncated proteolipid protein (PLP) amino acid sequence. Also disclosed are related nucleic acids, pharmaceutical compositions, methods of treating a demyelinating disease, and methods of producing the proteins.
Owner:THE GOVERNMENT OF THE UNITED STATES OF AMERICA AS REPRESENTED BY THE SECRETARY DEPARTMENT OF HEALTH & HUMAN SERVICES

Capturing truncated proteoforms in exhaled breath for diagnosis and treatment of diseases

Methods and devices to capture and analyze aerosolized particles such as protein biomarkers and their truncated proteoforms characteristic of a disease, including a respiratory disease, in exhaled breath to enable rapid detection of diseases are disclosed. The disclosed methods and systems selectively capture aerosolized particles using a packed bed column. The captured particles are then eluted using one or more solvents and analyzed using devices including mass spectrometry.
Owner:ZETEO TECH INC

IGF2BP3 truncated protein mutant, overexpression vector and application of IGF2BP3 truncated protein mutant

The invention provides an IGF2BP3 truncated protein mutant, an overexpression vector and application of the IGF2BP3 truncated protein mutant and belongs to the technical field of genetic engineering, and the IGF2BP3 truncated protein mutant is any one of the following items: 1) a truncated protein mutant I obtained by truncating a KH1-4 structural domain on the basis of IGF2BP3 wild type protein; 2) a truncated protein mutant II obtained by truncating a KH1-2 structural domain on the basis of IGF2BP3 wild type protein; 3) a truncated protein mutant III obtained by truncating a KH3-4 structural domain on the basis of IGF2BP3 wild-type protein.According to the invention, the specific KH structural domain can be systematically disassembled and studied through the obtained different IGF2BP3 truncated protein mutants, and further understanding of the functional mechanism of IGF2BP3 is promoted.
Owner:THE FIRST AFFILIATED HOSPITAL OF XINXIANG MEDICAL UNIVERSITY

Use of iscb in genome editing

Provided are modified proteins that are functional in RNA-guided DNA cleavage. The proteins include modified IscBs protein that have a modification of the N-terminus or C-terminus, or both. The modifications include a truncation of a PLMP domain of the IscB protein, or a PLMP domain that is relocated to a position of the IscB protein that is not the N-terminus. The modified IscB protein can be provided as a component of a fusion protein. The modified IscB proteins are used with an ωRNA to modify a DNA substrate.
Owner:CORNELL UNIVERSITY

PMFBP1 mutant gene related to azoosperm syndrome and application of PMFBP1 mutant gene

The invention provides a PMFBP1 mutant gene related to azoospermia syndrome and an application of the PMFBP1 mutant gene. The mutant gene is a PMFBP1 gene c.2641Cgt; the protein p.Arg881Ter is subjected to non-sense mutation, so that the encoded protein p.Arg881Ter is truncated, and the function of a sperm head-tail connection device is damaged. The invention also provides a specific Sanger sequencing detection method and a kit of the mutation, which can be used for rapid molecular diagnosis, genetic counseling and assisted reproduction guidance of the disease, and provides a basis for precise medical treatment.
Owner:RENMIN HOSPITAL OF WUHAN UNIVERSITY (HUBEI GENERAL HOSPITAL)

Porcine rotavirus VP8 protein-based IgG and IgA antibody detection kit as well as preparation method and application thereof

The invention discloses an IgG and IgA antibody detection kit based on porcine rotavirus VP8 protein as well as a preparation method and application of the IgG and IgA antibody detection kit. The kit comprises an elisa plate, positive control serum, negative control serum, an elisa secondary antibody, a sample diluent, a 20-time concentrated washing solution, a substrate solution A, a substrate solution B and a stop solution, wherein the elisa plate is coated with VP8 truncated protein of a porcine rotavirus epidemic strain expressed by mammalian cells. According to the kit, the IgG antibody and the IgA antibody of the porcine rotavirus can be detected at the same time under the condition that only one reagent (enzyme-labeled antibody) is added, and evaluation on the titer of the whole antibody is facilitated. The kit disclosed by the invention is high in sensitivity, high in specificity, good in stability, convenient to operate and relatively high in universality, and has a good market prospect.
Owner:CHINA ANIMAL HUSBANDRY IND

Porcine TMEM106a protein polyclonal antibody as well as preparation method and application thereof

The invention discloses a porcine TMEM106a protein polyclonal antibody as well as a preparation method and application thereof, and belongs to the technical field of biology. The pig TMEM106a protein polyclonal antibody is prepared by taking a protein with a sequence as shown in SEQ ID NO.2 as an antigen and carrying out animal immunization. According to the invention, a pig TMEM106a truncated protein segment is utilized to prepare the pig TMEM106a protein polyclonal antibody. The pig TMEM106a protein polyclonal antibody prepared by the invention is strong in specificity and high in titer, and can specifically recognize the TMEM106a protein in pig source cells, so that the pig TMEM106a protein polyclonal antibody can be applied to a pig TMEM106a protein detection reagent or kit. Important tools and technical supports are provided for functional research of the TMEM106a protein on pigs, and the method is suitable for large-scale popularization, production and application.
Owner:SHENZHEN INST OF GUANGDONG OCEAN UNIV

Subunit vaccine composition for bovine nodular skin disease virus as well as preparation method and application of subunit vaccine composition

The invention provides a subunit vaccine composition of a bovine nodular skin disease virus as well as a preparation method and application of the subunit vaccine composition. The subunit vaccine composition comprises subunit ORF61 protein and subunit ORF142 protein of the bovine nodular skin disease virus and a pharmaceutically acceptable adjuvant, the subunit ORF61 protein is an extracellular truncated protein of the ORF61 protein, and the amino acid sequence of the subunit ORF61 protein is as shown in SEQ ID NO. 1; the subunit ORF142 protein is an extracellular truncated protein of the ORF142 protein, and the amino acid sequence of the subunit ORF142 protein is as shown in SEQ ID NO. 2. The subunit vaccine composition for the bovine nodular skin disease virus has excellent immunogenicity and stability of ORF61 protein and ORF142 protein of the bovine nodular skin disease virus, is convenient for stable and efficient secretory expression in engineered cell strains, is high in yield and easy to purify, and has the characteristics of efficient secretory expression, high protein purity, reduced production cost, high safety and the like.
Owner:NOVO BIOTECH CORP

A mRNA based on hevorf2 truncated protein, preparation method and application thereof

The application provides mRNA based on HEV ORF2 truncated protein, a preparation method and application thereof, the mRNA based on HEV ORF2 truncated protein includes 5'UTR region, SP fragment, 3'UTR region, 3' terminal poly A tail, gene for encoding hepatitis E virus ORF2 truncated protein and 5' cap structure, the hepatitis E virus ORF2 truncated protein is ORF2-239aa protein or ORF2-549aa protein, the nucleotide sequence of the gene for encoding the ORF2-239aa protein is shown as SEQ ID NO.1, the nucleotide sequence of the gene for encoding the ORF2-549aa protein is shown as SEQ ID NO.2, the application has application value in hepatitis E research and vaccine creation, and can greatly promote the transformation application of vaccine.
Owner:XIANGHU LABORATORY

Fusion protein containing truncated iga protease and use thereof

The present application relates to a truncated IgA protease, a fusion protein comprising the truncated IgA protease (e.g., a fusion protein comprising the truncated IgA protease and an Fc), and use thereof in treating an IgA deposition disease (e.g., IgA nephropathy).
Owner:PEKING UNIVERSITY FIRST HOSPITAL (PEKING UNIVERSITY FIRST CLINICAL MEDICAL COLLEGE) +1

Expression cassette, recombinant expression vector, genetically engineered bacterium, construction method, culture method and application

The invention provides an expression cassette, a recombinant expression vector, a genetically engineered bacterium, a construction method, a culture method and an application, and particularly belongs to the technical field of genetic engineering. The invention provides an expression cassette. The expression cassette comprises a SpaC truncated protein gene, an antioxidant enzyme three-enzyme coupling system fusion protein gene and a cytokine fusion protein gene, the expression cassette further comprises a surface display system for presenting the SpaC truncated protein on the surface of the cell; the antioxidant enzyme three-enzyme coupling system fusion protein is fused with catalase, superoxide dismutase and glutathione peroxidase. The cytokine fusion protein is fused with a YebF protein and a trefoil factor 3 protein. The expression cassette provided by the invention has the function of improving the adhesion colonization ability of the EcN strain, can improve the active oxygen scavenging ability of the EcN strain and repair the intestinal epithelial barrier function, is high in safety, and can realize more effective treatment of inflammatory bowel diseases.
Owner:ZHEJIANG UNIV

Specific biomarker for granulomatous mastitis as well as preparation method and application of specific biomarker

PendingCN121476594AMicroorganism based processesDisease diagnosisDiseaseGranulomatous mastitis
The invention relates to the technical field of disease diagnosis, and provides a specific biomarker for granulomatous mastitis and a preparation method and application thereof, the specific biomarker is nicotinamide phosphoribosyltransferase truncated protein, and the amino acid sequence of the specific biomarker is shown as SEQ ID NO. 1. The NAMPT truncated protein is a specific molecule directly related to the GM pathogenesis. The detection result has high directivity, the positive result supports GM diagnosis, and the negative result is helpful for eliminating the GM diagnosis, so that non-iconography objective evidence is provided for differential diagnosis. GM and breast cancer are clearly distinguished in the early stage of diagnosis, and unnecessary anti-cancer treatment or delay of the real illness state is avoided.
Owner:CHENGDU INTERGENO BIOTECHNOLOGY CO LTD

Recombinant lactic acid bacteria expressing truncated hexon protein of avian adenovirus, construction method and application thereof

PendingCN122357414AStaphylococcus lactisAvian adenovirus
This invention discloses a recombinant lactic acid bacteria expressing a truncated avian adenovirus Hexon protein, its construction method, and its applications, belonging to the field of biomedical technology. This invention is the first to construct recombinant lactic acid bacteria strains pNZ8149-FAdV4ΔHexon / NZ3900 and pNZ8149-FAdV8bΔHexon / NZ3900 expressing the truncated avian adenovirus Hexon protein. SDS-PAGE and Western blotting analyses showed that the exogenous genes FADV4-ΔHexon and FADV-8bΔHexon were successfully expressed in *Lactococcus lactis* and exhibited reactivity. Oral immunization of one-day-old chicks showed that oral administration of the recombinant lactic acid bacteria induced humoral and cellular immunity, as well as local mucosal immunity. The results indicate that the recombinant constitutive lactic acid bacteria prepared in this invention can enhance the immunity of chicks.
Owner:SHANDONG AGRICULTURAL UNIVERSITY

Lipocalin 10 and its Truncated Protein as Therapeutic Agents for Inflammation-Induced Organ Dysfunction

A method of reducing the risk of a sepsis-induced vascular leak, tissue edema or organ dysfunction is provided. The method involves administering an effective amount of a composition selected from the group consisting of Lipocalin 10 (SEQ ID NO: 1), a truncated Lipocalin 10 (Lcn10) protein having the amino acid sequence SEQ ID NO: 2, Lcn 10-expressing vectors for full length / truncated Lcn10, or combinations thereof to the subject, The method is also useful for reducing the risk of a heart attack-induced cardiac dysfunction, atherosclerosis, inflammatory bowel disease or diabetes-induced cardiomyopathy.
Owner:UNIVERSITY OF CINCINNATI

Establishment method of gene point mutation non-human primate model

The invention relates to the technical field of medical animal disease models, in particular to a method for establishing a gene point mutation non-human primate model.According to the method, editing is conducted through a CRISPR / Cas9 gene editing system, and finally a non-human primate model carrying CHD8c.3724Cgt is obtained; according to the cynomolgus monkey with T (p.Arg1242Ter) point mutation, different types of point mutations occur at the 3724th basic group of the CHD8 gene, the mutation of T enables arginine (Arg) at the 1242nd site to be replaced by a termination codon to form truncated protein, so that the dosage of CHD8 protein haploid coded by the gene is insufficient. The animal model for simulating human CHD8 mutation related nervous system diseases is constructed and can be used as an ideal research model for researching autism related phenotypes caused by insufficient haplodose, and a foundation is laid for revealing a neurological dysfunction mechanism and exploring a potential treatment strategy.
Owner:SHENZHEN INST OF ADVANCED TECH CHINESE ACAD OF SCI

A bovine viral diarrhea virus ns2 truncated protein and use in bvdv antibody detection

ActiveCN119320436BSsRNA viruses positive-senseVirus peptidesBovine Viral Diarrhea VirusesElisa method
The application belongs to the technical field of biology and particularly relates to a bovine viral diarrhea virus NS2 truncated protein and application thereof in BVDV antibody detection. The application provides a truncated protein of BVDV NS2 protein. The truncated protein is soluble expressed after being fused with glutathione S transferase (GST) and horseradish peroxidase (HRP) respectively, has good reactivity with BVDV antibody positive serum, does not react with BVDV antibody negative serum, and can be used for BVDV antibody detection. Furthermore, the application constructs a double antigen sandwich ELISA method for BVDV antibody detection by taking the fusion protein of GST and the truncated protein as a coating antigen and taking the fusion protein of HRP and the truncated protein as a detection antigen. The method has the technical advantages of high sensitivity, good specificity, simple operation, easy popularization, low cost and the like, and can be applied to screening of BVDV antibodies in a cattle herd.
Owner:LANZHOU VETERINARY RESEARCH INSTITUTE CHINESE ACADEMY OF AGRICULTURAL SCIENCES(LANZHOU BRANCH CENTER OF CHINA ANIMAL HEALTH & EPIDEMIOLOGY CENTER)

Cell

The present invention relates to a cell which comprises a chimeric antigen receptor (CAR) and a signal transduction modifying protein, selected from one of the following: (i) a truncated protein which comprises an SH2 domain from a protein which binds a phosphorylated immunoreceptor tyrosine-based activation motif (ITAM), but lacks a kinase domain; (ii) a truncated protein which comprises an SH2 domain from a protein which binds a phosphorylated immunoreceptor tyrosine-based inhibition motif (ITIM) but lacks a phosphatase domain; (iii) a fusion protein which comprises (a) an SH2 domain from a protein which binds a phosphorylated immunoreceptor tyrosine-based activation motif (ITAM) or from a protein which binds a phosphorylated immunoreceptor tyrosine-based inhibition motif (ITIM); and (ii) a heterologous domain.
Owner:AUTOLUS LIMIED

RSV and hmpv fusion f protein and use thereof

Provided are an epitope or epitope peptide of a respiratory syncytial virus (RSV) F protein, and a fusion protein containing the epitope or epitope peptide and a truncated F protein of human metapneumovirus (hMPV) or a variant of the truncated protein. Further provided are the use of the fusion protein and of a vaccine, an immunogenic composition, a kit, and a pharmaceutical composition containing same in preventing and / or treating RSV and / or hMPV infection or diseases and / or symptoms caused by RSV and / or hMPV infection.
Owner:XIAMEN INNOVAX BIOTECH

Middle mountain disease virus truncated protein VP3s as well as preparation method and application thereof

PendingCN120683133AViral antigen ingredientsVirus peptidesDiseaseViral antibody
The invention relates to the technical field of biology, in particular to a truncated protein VP3s of a Zhongshan disease virus as well as a preparation method and application of the truncated protein VP3s. The Zhongshan disease virus antibody detection method has the technical advantages of being high in sensitivity, good in specificity, easy and convenient to operate, easy to popularize, low in cost and the like.
Owner:BEIJING BIAOCHI ZEHUI BIOTECHNOLOGY CO LTD +1

Use of membrane anchoring protein motif as a means of lytic granule repositioning to the cellular cortex to increase bystander killing as an adjuvant for solid tumor cell therapy

PCT designated stageWO2026148332A1AdjuvantCell membrane
Methods to purposefully target lytic granules to the cell membrane following NK cell activation for the benefit of bystander killing in a solid tumor setting as novel cell therapy approach. These methods can be used alone or in combination with dispersion related strategies. Methods of using truncated proteins from the dynein-dynactin complex to block dynein function to induce lytic granule dispersion. The methods and compositions enhance the lethality of degranulation events. The methods and compositions can boost cytotoxicity in a solid tumor directly or be combined with other technologies, such as immunotherapies to improve their outcomes.
Owner:THE TRUSTEES OF COLUMBIA UNIV IN THE CITY OF NEW YORK +1

Small peptides and use thereof in preparation of medicament for treating cancer

Small peptides, and a use thereof in the preparation of a medicament for treating cancer. Provided are a group of DSP small peptides, as well as full-length and truncated DDR1 proteins, all of which have the same active structure. Using in vivo tumor experiments, it is demonstrated that this group of DSP small peptides or truncated proteins can increase stem-like CD8+ memory T cells in bone marrow, and enhance the cytotoxic activity of CD8+ effector T cells, ultimately inhibiting the metastasis of lung cancer cells to brain tissue. In vitro, it is demonstrated that they have cytotoxic effects on tumor cells of eight types, including lung cancer, breast cancer, colorectal cancer, melanoma, prostate cancer, liver cancer, pancreatic cancer and bladder cancer.
Owner:SHANGHAI TENTH PEOPLES HOSPITAL

Application of PTCHD1 gene mutant and detection reagent

The invention discloses application of a PTCHD1 gene mutant and a detection reagent. Belongs to the technical field of gene mutation detection. According to the mutation, compared with a wild type PTCHD1 gene, cytosine C is replaced with adenine A at the 1644th nucleotide of a coding sequence, so that protein translation is terminated in advance at the 548th amino acid, and a truncated protein is formed. And the c.1644Cgt of the PTCHD1 gene is confirmed; a is pathogenic nonsense mutation causing AUTS4, a new insight is provided for the genetic basis of the disease, and the blank of the mutation spectrum of the disease is filled.
Owner:THE SECOND XIANGYA HOSPITAL OF CENT SOUTH UNIV