Western Blot: 1/500 - 1/2000. IHC-p: 1:100-300 ELISA: 1/20000. Not yet tested in other applications.
Immunogen:
Synthesized peptide derived from HEXA . at AA range: 121-170
Storage:
-20°C/1 year
Clonality:
Polyclonal
Isotype:
IgG
Concentration:
1 mg/ml
Observed Band:
60kD
GeneID:
3073
Human Swiss-Prot No:
P06865
Cellular localization:
Lysosome.
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. [provided by RefSeq, Jan 2016],