Gene: [15q2/HEXA] hexosaminidase A, alpha polypeptide; GM2-gangliosidosis I (Tay-Sachs disease, form b/b1, pseudo-AB);
FUN | Systematic name: beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase. Catalyzes hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides." |
MOP | Three beta-N-hexosaminidase isoforms have been known: A - heterodimer comprising alpha- and beta-subunits (AB2), B - homodimer comprising two beta subunits (2B2), and S - homodimer comprising two alpha subunits (2A; usually with very weak catalytic activity)." |
HET | For one type of infantile amaurotic idiocy, Tay-Sachs gangliosidosis, at least three loci are identified. These loci control biosynthesis and expression of hexosaminidase, which defects are most likely to account for this disease. On other types of infantile amaurotic idiocy, see GEM:16p121/CLN3 and GEM:01p32/PPT." |
REF | EVO "Korneluk RG &:
JBC, 261, 8407-8413, 1986 SEQ "Myerowitz R &: PNAS, 82, N23, 7830-7834, 1985 GEN "Proia RL: PNAS, 85, 1883-1887, 1988 SEQ "Proia RL, Soravia: JBC, 262, 5677-5681, 1987 |
SWI | SWISSPROT: P06865 |
KEY | carb, mtbd, lys |
CLA | coding, basic |
LOC | 15 q23-24 |
MIM | MIM: 272800 |
EZN | ENZYME: 3.2.1.52 |
