GALE

Chr 1p36.11

UDP-galactose-4-epimerase

Aliases:: SDR1E1
MANE:: ENST00000617979.5

OMIM: 606953 ↗NCBI: 2582 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GALE · Q14376

v62025-08-01

Predicted Aligned Error matrix for GALE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

97.1/ 100

Very high

348 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)5%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

galactose epimerase deficiency
0.84
thrombocytopenia 13, syndromic
0.54
Intellectual disability
0.46
hereditary disease
0.41
galactosemia
0.38
erythrocyte galactose epimerase deficiency
0.37
generalized galactose epimerase deficiency
0.37
scleritis
0.27
autoimmune disorder of central nervous system
0.24
glioblastoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

UDP-glucose 4-epimerase

Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids