HEXA rabbit pAb

• 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]

• Description :

  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],

• UniProt :

  P06865

• Swiss Prot :

  P06865

• Reactivity :

  Human; Mouse; Rat

• Immunogen :

  Synthesized peptide derived from HEXA . at AA range: 121-170

• Clonality :

  Polyclonal

• Source :

  Rabbit

• Applications :

  WB; IHC; IF; ELISA

• Concentration :

  1 mg/ml

• Dilution :

  Western Blot: 1/500 - 1/2000. IHC-p: 1:100-300 ELISA: 1/20000. Not yet tested in other applications.

• Molecular Weight :

  60kD

• Storage Conditions :

  -20°C/1 year

• Observed Molecular Weight :

  60kD

• Fragment :

  IgG

• Subcellular Location :

  Lysosome.

• Other Product Names :

  HEXA; Beta-hexosaminidase subunit alpha; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha

• Gene ID (Human) :

  3073