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Peptide sequence: WKDFYIVEPL AFEGTPEQKA LVIGGEACMW GEYVDNTNLV PRLWPRAGAV
Sequence homology: Cow: 93%; Dog: 85%; Guinea Pig: 86%; Horse: 93%; Human: 100%; Mouse: 100%; Pig: 100%; Rabbit: 93%; Rat: 93%; Sheep: 93%
This gene 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).
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: HEXA; TSD
UniProt ID: (Human) P06865
Entrez Gene ID: (Human) 3073