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. 蛋白别名为：HEXA; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha;基因ID为：3073；蛋白质ID:P06865
应用类型
WB，IHC-p，ELISA补充：最优的抗体稀释比例需要基于客户实验进行优化.建议的起始稀释比例如下: WB: 1:500-1:2000, IHC-p: 1:100-300 ELISA: 1:20000. Not yet tested in other applications.
