GALE (NM_001008216) Human Recombinant Protein

• Background:

  This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form) . Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

• Synonyms:

  SDR1E1

• Gene ID:

  2582

• UniProt:

  Q14376, A0A384NL38

• Accession Number mRNA:

  NM_001008216

• Chromosomal Location:

  1p36.11

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Related Pathways:

  Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways

• Field of Research:

  Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways

• 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

• Molecular Weight:

  38.1 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:

  GALE

• Species:

  Human

• Protein ID:

  NP_001008217

• Overview:

  Recombinant protein of human UDP-galactose-4-epimerase (GALE), transcript variant 2

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/2582

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q14376

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_001008216

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_001008217