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, Jul 2008]

FLJ95174; FLJ97302; Galactose 4 epimerase UDP; Galactowaldenase; galE; GALE_HUMAN; OTTHUMP00000002991; OTTHUMP00000002994; OTTHUMP00000037931; OTTHUMP00000044857; SDR1E1; short chain dehydrogenase/reductase family 1E member 1; UDP galactose 4 epimerase; UDP glucose 4 epimerase; UDP-galactose 4-epimerase; UDP-glucose 4-epimerase.

Mouse,Human,Rat,Pig,Horse

WB

WB 1:500-2000

38kD

2582

Q14376

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

KLH conjugated synthetic peptide derived from human GALE/Galactowaldenase

Rabbit

Polyclonal

IgG

affinity purified by Protein A

Liquid

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.