Store at -20°C. Avoid freeze / thaw cycles.Stable for one year from the date of shipment.
储存液
PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
纯化方法
Affinity purification
亚型
IgG
免疫原
Recombinant protein of human HEXA
性状
Lyophilized or Liquid
Swiss Prot
P06865
克隆类型
Polyclonal Antibody
来源
Rabbit
背景资料
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.