GALE
UDP-galactose-4-epimerase
Sinónimos:
SDR1E1
Especie:
Human GALE (2582), Mouse Gale (74246), Rat Gale (114860), cow GALE (523154), sheep GALE (101120144), naked mole-rat Gale (101714632), domestic guinea pig Gale (100722082), Zebrafish gale (678540), fruit fly Gale (38076), chicken GALE (419686) ...Más
ID UniProtKB:
ID del gen:
- Human(2582) 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, Jul 2008]
- Mouse(74246) galactose-4-epimerase, UDP
- Rat(114860) UDP-galactose-4-epimerase
- cow(523154) UDP-galactose-4-epimerase
- sheep(101120144) UDP-galactose-4-epimerase
- naked mole-rat(101714632) UDP-galactose-4-epimerase
- domestic guinea pig(100722082) UDP-galactose-4-epimerase
- Zebrafish(678540) UDP-galactose-4-epimerase
- fruit fly(38076) UDP-galactose 4'-epimerase
- chicken(419686) UDP-galactose-4-epimerase
- domestic cat(101099312) UDP-galactose-4-epimerase
- dog(487373) UDP-galactose-4-epimerase
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Antibodies
Referencia del producto
Descripción
Reactividad de especies
Aplicación
Anti-Gale Antibody Produced In Rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reactividad de especies
human
Aplicación
immunofluorescence