Aliases for HEXA Gene
External Ids for HEXA Gene
Previous GeneCards Identifiers for HEXA Gene
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GeneCards Summary for HEXA Gene
HEXA (Hexosaminidase Subunit Alpha) 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 Defective B4GALT7 causes EDS, progeroid type and Glycosaminoglycan 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.