HEXA encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. 蛋白別名為：HEXA; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha;基因ID為：3073；蛋白質ID:P06865
應用類型
WB，IHC-p，ELISA補充：最優的抗體稀釋比例需要基于客戶實驗進行優化.建議的起始稀釋比例如下: WB: 1:500-1:2000, IHC-p: 1:100-300 ELISA: 1:20000. Not yet tested in other applications.
