HEXA

HEXA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2GJX, 2GK1
Identifiers
Aliases	HEXA, TSD, hexosaminidase subunit alpha
External IDs	MGI: 96073 HomoloGene: 20146 GeneCards: HEXA
Gene ontology Molecular function • acetylglucosaminyltransferase activity • protein heterodimerization activity • hydrolase activity, hydrolyzing O-glycosyl compounds • hydrolase activity • hydrolase activity, acting on glycosyl bonds • beta-N-acetylhexosaminidase activity Cellular component • extracellular exosome • membrane • lysosome • lysosomal lumen • azurophil granule Biological process • hyaluronan catabolic process • glycosaminoglycan biosynthetic process • metabolic process • glycosphingolipid metabolic process • chondroitin sulfate catabolic process • keratan sulfate catabolic process • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3073	15211
Ensembl	ENSG00000213614	ENSMUSG00000025232
UniProt	P06865	P29416
RefSeq (mRNA)	NM_000520 NM_001318825	NM_010421
RefSeq (protein)	NP_000511 NP_001305754	NP_034551.2 NP_034551
Location (UCSC)	Chr 15: 72.34 – 72.38 Mb	Chr 9: 59.54 – 59.57 Mb
PubMed search

2GJX, 2GK1

3073

15211

ENSG00000213614

ENSMUSG00000025232

P06865

P29416

NM_000520
NM_001318825

NM_010421

NP_000511
NP_001305754

NP_034551.2
NP_034551

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.

Hexosaminidase A and the cofactor G_M2 activator protein catalyze the degradation of the G_M2gangliosides and other molecules containing terminal N-acetyl hexosamines. Hexosaminidase A is a heterodimer composed of an alpha subunit (this protein) and a beta subunit. The alpha subunit polypeptide is encoded by the HEXA gene while the beta subunit is encoded by the HEXB gene. Gene mutations in the gene encoding the beta subunit (HEXB) often result in Sandhoff disease; whereas, mutations in the gene encoding the alpha subunit (HEXA, this gene) decrease the hydrolysis of G_M2 gangliosides, which is the main cause of Tay–Sachs disease.

...
Wikipedia