GALE Products

Description

GALE 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.

Bioinformatics

Entrez	2582 Human
Uniprot	AAH01273 Human NM_000403 Human NM_001008216 Human NP_000394 Human NP_000394.2 Human NP_001121093 Human Q14376 Human
Product By Gene ID	2582
Alternate Names	EC 5.1.3 EC 5.1.3.2 FLJ95174 FLJ97302 Galactowaldenase short chain dehydrogenase/reductase family 1E, member 1 UDP galactose-4'-epimerase UDP- UDP-galactose 4-epimerase UDP-galactose-4-epimerase UDP-glucose 4-epimerase

Research Areas for GALE

Find related products by research area and learn more about each of the different research areas below.

Lipid and Metabolism