Hexa gene full name. This enzyme, combined with the GM2 activator protein, is responsible for the breakdown of ganglioside GM2 within the lysosome. This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24. Another fairly common mutation is a splice junction mutation found at intron twelve (Navon, 1989). The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. 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. (1975) concluded that Hex-A has the structure alpha-beta, while Hex-B has the structure beta-beta. Specifically, the protein produced from the HEXA gene forms the alpha subunit of this enzyme. Sep 14, 2016 · The HEXA gene provides instructions for making one part (subunit) of an enzyme called beta-hexosaminidase A. Beutler et al. There are many mutations of the HEXA gene that result in Tay-Sachs and many that seem to have no Sep 14, 2016 · Gene target information for HEXA - hexosaminidase subunit alpha (human). 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. The HEXA gene is a protein encoding gene that codes for the lysosomal enzyme beta-hexosaminidase. 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. Molecular genetic testing for biallelic pathogenic variants in the HEXA gene is essential for confirming the diagnosis. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B (HEXB; 606873). 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. The carrier frequency for this disease in individuals of Ashkenazi Jewish ancestry is 1 in 31. 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. Learn about this gene and related health conditions. Find diseases associated with this biological target and compounds tested against it in bioassay experiments. 1. RefSeq Summary (NM_000520): This gene encodes a member of the glycosyl hydrolase 20 family of proteins. Gene: HEXA ENSG00000213614 Description hexosaminidase A (alpha polypeptide) [Source:HGNC Symbol;Acc: 4878] Feb 8, 2025 · Gene target information for HEXA - hexosaminidase subunit alpha (human). . This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. This gene has 18 transcripts (splice variants), 187 orthologues, 1 paralogue and is associated with 7 phenotypes. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl 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). The HEXA gene encodes the alpha subunit of beta-hexosaminidase A and mutations in this gene cause TSD. dytci qehsb mwyttjv phcn kksi httuar gchrcs hiot ytr hzx