Hexa gene full name. Learn about this gene and related health conditions.

Hexa gene full name. Tay-Sachs disease is caused by genetic changes in the HEXA gene and inheritance is autosomal recessive. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. (1975) concluded that Hex-A has the structure alpha-beta, while Hex-B has the structure beta-beta. png HEXA gene is located on the long (q) arm of chromosome 15 at position 24. Beta-hexosaminidase A plays a critical role in the brain and HEXA gene: The most common mutation of the HEXA gene resulting in Tay-Sachs disease is a four base pair insertion found in exon eleven (OMIM,2001). Hexosaminidase A (alpha polypeptide), also known as HEXA, is an enzyme that in humans is encoded by the HEXA gene, located on the 15th chromosome. Different assays that were carried out for the protein. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies May 30, 2023 · HEXA Gene, Full Gene Analysis GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside. Feb 8, 2025 · Gene target information for HEXA - hexosaminidase subunit alpha (human). : GTR000593323. 1. 1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Feb 8, 2025 · Gene target information for HEXB - hexosaminidase subunit beta (human). Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. 1 Jun 5, 2019 · Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. 1 + /C- (K)DYK or the vector of your choice as an expression/transfection-ready ORF Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Showing cell line RNA expression of HEXA . A large number of HEXA mutations have been discovered, and 76033-0 HEXA gene full mutation analysis in Blood or Tissue by Sequencing Active Part Descriptions LP150045-5 Sequencing Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i. Test ID HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Clinical features Mutations of the HEXA gene encoding the α subunit of HexA are the genetic basis of Tay–Sachs disease, which in its classic form usually presents with onset of symptoms in infancy. Historically, most sequencing has been performed using the chain termination method developed by The following HEXA gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). The HEXA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, A. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. . Showing subcellular location of HEXA (). Functional Associations HEXA has 5,581 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 103 datasets. TSD occurs in approximately 1 in 200,000 live births with a carrier frequency of 1 in 250 to 1 in 300 in the general population. Cell atlas. Beta-hexosaminidase subunit beta is an enzyme that in humans is encoded by the HEXB gene. HEXA gene / cDNA is a protein-coding gene which located on 15q23. HEXA refers to a gene whose deficiency in activity is associated with certain forms of Tay-Sachs disease, leading to progressive neurological decline and other clinical features. Below, a more detailed description is shown per column. [5][6][7] Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. clusters of genes or operons), full chromosomes or entire genomes. Beta-hexosaminidase is composed of two subunits The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. A significantly higher activity of N-acetyl-beta-D-hexosaminidase in all laryngeal cancer specimens compared with that in healthy tissue homogenates, was observed. Learn about this gene and related health conditions. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. The format is GTR00000001. Mutations in The HGNC is a resource for approved human gene nomenclature containing ~42000 gene symbols and names and 1300+ gene families and sets CANCER BLOOD CELL LINE STRUCT & INT HEXA () protein expression summary. There are links to the lab to order the test and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB to support the clinician's informed test selection. These sequences represent the protein coding region of the HEXA cDNA ORF which is encoded by the open reading frame (ORF) sequence. Mar 26, 2025 · The HEXA gene is responsible for the structure of the HEXA protein, which is a subunit of the hexosaminidase A enzyme. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. thaliana, and rice. Beutler et al. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. 202 organisms have orthologs with human gene HEXA. Click the + buttons to view associations for HEXA from the datasets May 30, 2023 · Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. Dec 7, 2023 · The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase, which is responsible for the breakdown of ganglioside GM2 within the lysosome. The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24. Assigned HPA protein class (es) for the encoded protein (s). This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Legend Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. Molecular genetic testing for biallelic pathogenic variants in the HEXA gene is essential for confirming the diagnosis. When a laboratory updates a registered test, a new version number is assigned. Detected mutations in the HEXA gene through gene sequencing and, by combining the HEXA enzyme assay and the HEXA gene sequencing assay, were able to clarify Tay Sachs carrier status. Inheriting two variant copies of the gene (homozygotes) causes a deficiency of the hexosaminidase A enzyme. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Title: - Also known as: - Full name: - Gene type: - Refseq status: - Gene size: - Exon count: - Organism: - Summary: - Expression: - Ortholog (s): - - Function Genome Expression Protein Variation Sequence Phenotype Number Description Literature *Project: Dropdown Project title: - Accession and Version Protein OMIM Type Source MedGen Comments The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B (HEXB; 606873). This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl The HEXA Gene: Unraveling Tay-Sachs Disease and its Link to Lipid Metabolism The HEXA gene is a crucial player in both our neurological health and the intricate world of lipid metabolism. Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. ORF sequences can be delivered in our standard vector, pcDNA3. File:HEXA location. Full gene name according to HGNC. It holds the instructions for creating an essential enzyme called hexosaminidase A (Hex-A), which is responsible for breaking down a fatty substance called GM2 ganglioside within our brain and nerve cells The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. More than 80 different variants of the HEXA gene have been identified in individuals with Tay-Sachs disease. The miniature images are clickable and link directly to the respective section. The lifespan varies from shortened to unaffected. Test Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies Useful For Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified May 31, 2022 · Clinical Molecular Genetics test for Tay-Sachs disease and using Sequence analysis of the entire coding region, Bi-directional Sanger Sequence Analysis offered by Mayo Clinic Laboratories. Order Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. All transcripts of all genes have been analyzed regarding the location (s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions. [1][2] Hexosaminidase A and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified Testing individuals with enzyme activity consistent with carrier status but negative molecular testing by a panel of common mutations The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. e. One alpha subunit joins with one beta subunit (produced from the HEXB gene) to form a functioning beta-hexosaminidase A enzyme. The carrier frequency for this disease in individuals of Ashkenazi Jewish ancestry is 1 in 31. kowvoq izmc mafljy ddthbs uyknh bmkxww anmkr koqyw cynwpmo xdirqq