HEXA
hexosaminidase A (alpha polypeptide)
同義詞:
TSD
物種:
Human HEXA (3073), Mouse Hexa (15211), Rat Hexa (300757), chicken HEXA (415320), Zebrafish hexa (323613), domestic guinea pig Hexa (100712955), naked mole-rat Hexa (101718368), domestic cat HEXA (101091627), dog HEXA (487633), Horse HEXA (100063584) ...更多
UniProtKB ID:
基因 ID:
- Human(3073) Summary: 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). [provided by RefSeq, Jul 2009]
- Mouse(15211) hexosaminidase A
- Rat(300757) hexosaminidase A
- chicken(415320) hexosaminidase A (alpha polypeptide)
- Zebrafish(323613) hexosaminidase A (alpha polypeptide)
- domestic guinea pig(100712955) hexosaminidase A (alpha polypeptide)
- naked mole-rat(101718368) hexosaminidase A (alpha polypeptide)
- domestic cat(101091627) hexosaminidase A (alpha polypeptide)
- dog(487633) hexosaminidase A (alpha polypeptide)
- Horse(100063584) hexosaminidase A (alpha polypeptide)
- sheep(100145856) hexosaminidase A (alpha polypeptide)
- cow(504468) hexosaminidase A (alpha polypeptide)
- Domestic Rabbit(100008950) hexosaminidase A (alpha polypeptide)
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