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

Смотрите также:

  • Gene: [05q13/HEXB] hexosaminidase B, beta polypeptide; gangliosidosis GM2, type II (Sandhoff disease); motor neuron disease, progressive;
  • Болезнь Тея-Сакса. Строение гена гексозаминидазы HEXA
  • HEXA: Гексозаминидаза A
  • Болезнь Тея-Сакса. Локализация гена гекозаминидазы HEXA