Product info:

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.

Alternative names:

GALE; SDR1E1

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

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Isotype:

IgG

Immunogen:

Recombinant fusion protein containing a sequence corresponding to amino acids 129-348 of human GALE (NP_001121093.1).

Positive control:

SW480, SKOV3, HepG2, U-251MG, HeLa, Mouse liver, Rat liver

AA Sequence:

FSSSATVYGNPQYLPLDEAHPTGGCTNPYGKSKFFIEEMIRDLCQADKTWNAVLLRYFNPTGAHASGCIGEDPQGIPNNLMPYVSQVAIGRREALNVFGNDYDTEDGTGVRDYIHVVDLAKGHIAALRKLKEQCGCRIYNLGTGTGYSVLQMVQAMEKASGKKIPYKVVARREGDVAACYANPSLAQEELGWTAALGLDRMCEDLWRWQKQNPSGFGTQA

Purification:

Affinity purification

Molecular weight:

Calculated MW: 30kDa/38kDa Observed MW: 38kDa

Form:

Liquid

Applications:

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Dilution:

WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:10 - 1:100

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

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Orders:

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