Background: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.
仕様
Synonyms:Beta hexosaminidase alpha chain precursor,Beta hexosaminidase subunit alpha,Beta N acetylhexosaminidase,Beta N acetylhexosaminidase subunit alpha,Beta-hexosaminidase A,Beta-hexosaminidase subunit alpha,Beta-N-acetylhexosaminidase subunit alpha,Hexa,HEXA,Hexosaminidase A (alpha polypeptide),Hexosaminidase A alpha polypeptide,Hexosaminidase A,Hexosaminidase subunit A,MGC99608,N acetyl beta glucosaminidase,N acetyl beta glucosaminidase subunit alpha,N-acetyl-beta-glucosaminidase subunit alpha,TSD
Host:Rabbit
Reactivity:Human,Mouse,Rat
Applications:IHC
Concentration:1mg/ml
Immunogen:Recombinant protein of human HEXA
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.