AlphaFold predicted structure
GALC · P54803
Mean pLDDT
94.1/ 100
Very high
685 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)3%
- Low(50–70)0%
- Very low(< 50)6%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GALC
Chr 14q31.3galactosylceramidase
- MANE:
- ENST00000261304.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalAdult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Krabbe disease
0.86hereditary disease
0.51inflammatory bowel disease
0.43Crohn disease
0.42spastic ataxia
0.41Parkinson disease
0.40adult Krabbe disease
0.39late-infantile/juvenile Krabbe disease
0.38infantile Krabbe disease
0.38ulcerative colitis
0.36
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Galactocerebrosidase
Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8281145, PubMed:8399327). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon (PubMed:8281145, PubMed:8399327)