GALE
Chr 1ARUDP-galactose-4-epimerase
Also known as: SDR1E1, THC13
The encoded UDP-galactose-4-epimerase catalyzes the epimerization of UDP-glucose to UDP-galactose and UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine, making cells dependent on both exogenous galactose and N-acetylgalactosamine for glycoprotein and glycolipid synthesis. Mutations cause autosomal recessive epimerase-deficiency galactosemia (galactosemia type 3), characterized by liver damage, early-onset cataracts, deafness, and cognitive disability with variable severity from mild peripheral to severe generalized forms. Mutations also cause thrombocytopenia 13, syndromic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GALE · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools