GALE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GALE wild-type allele is located in the vicinity of 1p36.11 and is approximately 5 kb in length. This allele, which encodes UDP-glucose 4-epimerase protein, is involved in the reversible epimerization of glucose to galactose for precursor molecules involved in cellular metabolism and the synthesis of glycoproteins and glycolipids. Mutations in the gene are associated with galactosemia 3 (galactose epimerase deficiency) and syndromic thrombocytopenia 13.

**Synonyms:** - Galactose Epimerase Gene - Galactose-4-Epimerase, UDP- Gene - SDR1E1 - Short Chain Dehydrogenase/Reductase Family 1E, Member 1 Gene - THC13 - UDP-Galactose-4-Epimerase wt Allele