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Immunogen sequence: MAEKVLVTG GAGYIGSHTV LELLEAGYLP VVIDNFHNAF RGGGSLPESL RRVQELTGRS VEFEEMDILD QGALQRLFKK YSFMAVIHFA GLKAVGESVQ KPLDYYRVNL TGTIQLLEIM KAHGVKNLVF SSSATVYGNP QYLPLDEAHP TGGCTNPYGK SKFFIEEMIR DLCQADKTWN AVLLRYFNPT GAHASGCIGE DPQGIPNNLM PYVSQVAIGR REALNVFGND YDTEDGTGVR DYIHVVDLAK GHIAALRKLK EQCGCRIYNL GTGTGYSVLQ MVQAMEKASG KKIPYKVVAR REGDVAACYA NPSLAQEELG WTAALGLDRM CEDLWRWQKQ NPSGFGTQA (1-348 aa encoded by BC050685 )
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: galactose-4-epimerase, UDP-; Galactowaldenase; short chain dehydrogenase/reductase family 1E, member 1; UDP galactose-4'-epimerase; UDP-galactosamine 4-epimerase; UDP-galactose 4-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-glucose 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase
Gene Aliases: 2310002A12Rik; AI323962; GALE; SDR1E1
UniProt ID: (Human) Q14376, (Mouse) Q8R059
Entrez Gene ID: (Human) 2582, (Mouse) 74246
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