Entrez gene ID | | 2582 |
Official gene symbol | | GALE |
Full name | | UDP-galactose-4-epimerase |
Aliases | | ,FLJ95174,FLJ97302,SDR1E1, |
Gene 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 mental retardation, 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] |
Location | | Chromosome: 1 Locus: 1p36-p35 |
Gene position | | 24127294 - 24122089 Map Viewer |
Gene orientation | | minus |
Gene size | | 5206 bp |
Gene sequence |
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OMIM ID | | 606953 |
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