Tissue expression
Cell line expression
Protein structure
GALE
UDP-galactose-4-epimeraseSDR1E1
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]
Top validated antibodies |
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Proteintech Group | 14414-1-AP | 4 references | Polyclonal |
WB
EL
ICC
IP
IHC
|
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Invitrogen Antibodies | 14414-1-AP | Polyclonal |
WB
ICC
IP
IHC
OA
|
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Abgent | AP6902c | Polyclonal |
WB
ICC
IHC
FC |
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NSJ Bioreagents | F54898 | Polyclonal |
WB
ICC
IHC
FC |
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antibodies-online | ABIN2841099 | Polyclonal |
WB
ICC
IHC
FC |
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Supportive data in Antibodypedia
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Recommended by provider