HEXB (NM_000521) Human Recombinant Protein

• Background:

  Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II) . Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

• Synonyms:

  ENC-1AS; HEL-248; HEL-S-111

• Gene ID:

  3074

• UniProt:

  P07686, A0A024RAJ6

• Accession Number mRNA:

  NM_000521

• Chromosomal Location:

  5q13.3

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Amino sugar and nucleotide sugar metabolism, Glycosaminoglycan degradation, Glycosphingolipid biosynthesis - ganglio series, Glycosphingolipid biosynthesis - globo series, Lysosome, Metabolic pathways, Other glycan degradation

• Field of Research:

  Amino sugar and nucleotide sugar metabolism, Glycosaminoglycan degradation, Glycosphingolipid biosynthesis - ganglio series, Glycosphingolipid biosynthesis - globo series, Lysosome, Metabolic pathways, Other glycan degradation

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome, Transmembrane

• Molecular Weight:

  62.9 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  HEXB

• Species:

  Human

• Protein ID:

  NP_000512

• Overview:

  Recombinant protein of human hexosaminidase B (beta polypeptide) (HEXB)

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/3074

• Uniprot URL:

  https://www.uniprot.org/uniprot/P07686

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_000521

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_000512