GALM

Chr 2p22.1

galactose mutarotase

MANE:: ENST00000272252.10

OMIM: 137030 ↗NCBI: 130589 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GALM · Q96C23

v62025-08-01

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

Mean pLDDT

97.8/ 100

Very high

342 residues

Confidence breakdown

Very high(≥ 90)99%
Confident(70–90)2%
Low(50–70)0%
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
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

galactosemia 4
0.78
Abnormality of the skeletal system
0.35
hypothyroidism
0.30
nerve plexus disorder
0.28
skin disorder
0.28
Alzheimer disease
0.28
alcohol drinking
0.28
nutritional deficiency disease
0.24
Genu varum
0.24
Genu valgum
0.24

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

Protein function (UniProt)

Galactose mutarotase

Mutarotase that catalyzes the interconversion of beta-D-galactose and alpha-D-galactose during galactose metabolism (PubMed:12753898). Beta-D-galactose is metabolized in the liver into glucose 1-phosphate, the primary metabolic fuel, by the action of four enzymes that constitute the Leloir pathway: GALM, GALK1 (galactokinase), GALT (galactose-1-phosphate uridylyltransferase) and GALE (UDP-galactose-4'-epimerase) (PubMed:30451973). Involved in the maintenance of the equilibrium between the beta- and alpha-anomers of galactose, therefore ensuring a sufficient supply of the alpha-anomer for GALK1 (PubMed:12753898). Also active on D-glucose although shows a preference for galactose over glucose (PubMed:12753898)