Domain

Beta-hexosaminidase, eukaryotic type, N-terminal (IPR029019)

Short name: HEX_eukaryotic_N

Domain relationships

Description

This entry represents the N-terminal domain of the eukaryotic beta-hexosaminidases. 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 [PMID: 8357844].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam