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Human HEXA quantitates human HEXA in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human HEXA.
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).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
基因别名 : TSD
基因ID : (Human) 3073
基因符号 : HEXA
蛋白别名 : beta-hexosaminidase, beta-N-acetylhexosaminidase subunit alpha, EC 3.2.1, EC 3.2.1.52, MGC99608, HEXA, hexosaminidase A (alpha polypeptide), hexosaminidase A (alpha polypeptide) isoform HEXA_1, hexosaminidase A (alpha polypeptide) isoform HEXA_2, hexosaminidase A (alpha polypeptide) isoform HEXA_3, hexosaminidase A (alpha polypeptide) isoform HEXA_4, hexosaminidase A (alpha polypeptide) isoform HEXA_5, hexosaminidase subunit A, N-acetyl-alpha-glucosaminidase prepro-polypeptide, N-acetyl-beta-glucosaminidase subunit alpha, Unknown, unnamed protein product
UniProt ID (Human) P06865