Protein Domain : Beta-hexosaminidase IPR025705

Type  Family
Description  This entry represents beta-hexosaminidase ( ). There are 3 forms of beta-hexosaminidase: hexosaminidase A is a trimer, with one alpha, one beta-A and one beta-B chain; hexosaminidase B is a tetramer of two beta-A and two beta-B chains; and hexosaminidase S is a homodimer of alpha chains. The two beta chains are derived from the cleavage of a precursor. In the brain and other tissues, beta-hexosaminidase A degrades GM2 gangliosides; specifically, the enzyme hydrolyses terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. Mutations in the beta-hexosaminidase beta-chain lead to Sandhoff disease, a lysosomal storage disorder characterised by accumulation of GM2 ganglioside [ ].Beta-hexosaminidase belongs to the glycoside hydrolase family 20 ( ).
Short Name  Beta_hexosaminidase_sua/sub

0 Child Features

2 Gene Families

376 Genes

2 Ontology Annotations

0 Parent Features

14 Publications

USDA
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