Aliases for HEXA Gene
External Ids for HEXA Gene
Previous GeneCards Identifiers for HEXA Gene
This gene encodes the alpha 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. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
GeneCards Summary for HEXA Gene
HEXA (Hexosaminidase A (Alpha Polypeptide)) is a Protein Coding gene. Diseases associated with HEXA include tay-sachs disease and tay-sachs disease, b variant, juvenile form. Among its related pathways are Disease and Sphingolipid metabolism. GO annotations related to this gene include protein heterodimerization activity and beta-N-acetylhexosaminidase activity. An important paralog of this gene is HEXB.
UniProtKB/Swiss-Prot for HEXA Gene
Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity