Hexosaminidase A/HEXA Products

Description

HEXA 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]

Bioinformatics

Entrez	3073 Human
Uniprot	AAH18927 Human NM_000520 Human P06865 Human
Product By Gene ID	3073
Alternate Names	beta-hexosaminidase subunit alpha Beta-N-acetylhexosaminidase subunit alpha EC 3.2.1 EC 3.2.1.52 hexosaminidase A (alpha polypeptide) Hexosaminidase subunit A MGC99608 N-acetyl-beta-glucosaminidase subunit alpha TSD