| Description : |
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. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
38.3 kDa |
| AA Sequence : |
MAEKVLVTGGAGYIGSHTVLELLEA GYLPVVIDNFHNAFRGGGSLPESLR RVQELTGRSVEFEEMDILDQGALQR LFKKYSFMAVIHFAGLKAVGESVQK PLDYYRVNLTGTIQLLEIMKAHGVK NLVFSSSATVYGNPQYLPLDEAHPT GGCTNPYGKSKFFIEEMIRDLCQAD KTWNAVLLRYFNPTGAHASGCIGED PQGIPNNLMPYVSQVAIGRREALNV FGNDYDTEDGTGVRDYIHVVDLAKG HIAALRKLKEQCGCRIYNLGTGTGY SVLQMVQAMEKASGKKIPYKVVARR EGDVAACYANPSLAQEELGWTAALG LDRMCEDLWRWQKQNPSGFGTQATR TRPLEQKLISEEDLAANDILDYKDD DDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
