靶标：
HEXA
产品别名：
TSD； HEXA； hexosaminidase subunit alpha； hexosaminidase subunit alpha； beta-hexosaminidase subunit alpha； N-acetyl-beta-glucosaminidase subunit alpha； beta-N-acetylhexosaminidase subunit alpha； hexosaminidase A (alpha polypeptide)； hexosaminidase subunit A； β氨基己糖苷酶A； 氨基己糖苷酶Aα(HEXa)；
背景信息：
This gene 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. [provided by RefSeq, Jan 2016],
