GALE (NM_001127621) Human Recombinant Protein

CAT#: TP325521

Recombinant protein of human UDP-galactose-4-epimerase (GALE), transcript variant 3

Product Images

Coomassie blue staining of purified GALE protein (Cat# TP325521). The protein was produced from HEK293T cells transfected with GALE cDNA clone (Cat# RC225521) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Species: Human
• Expression Host: HEK293T
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Recombinant protein was produced with TrueORF clone, RC225521. Click on the TrueORF clone link to view cDNA and protein sequences.
• Tag: C-Myc/DDK
• Predicted MW: 38.1 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
• Storage: Store at -80°C.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_001121093
• Locus ID: 2582
• UniProt ID: Q14376, A0A384NL38
• Cytogenetics: 1p36.11
• Refseq Size: 1626
• Refseq ORF: 1044
• Synonyms: SDR1E1
• Summary: '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]'
• Protein Families: Druggable Genome
• Protein Pathways: Amino sugar and nucleotide sugar metabolism, Galactose metabolism, Metabolic pathways