InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GALC

Summary

InnateDB Protein

IDBP-600330.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GALC

Protein Name

galactosylceramidase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000437513

InnateDB Gene

IDBG-14802 (GALC)

Protein Structure

UniProt Annotation

Function

Hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. 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. {ECO:0000269PubMed:8281145, ECO:0000269PubMed:8399327}.

Subcellular Localization

Lysosome.

Disease Associations

Leukodystrophy, globoid cell (GLD) [MIM:245200]: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. {ECO:0000269PubMed:10234611, ECO:0000269PubMed:10477434, ECO:0000269PubMed:17579360, ECO:0000269PubMed:20886637, ECO:0000269PubMed:23462331, ECO:0000269PubMed:8595408, ECO:0000269PubMed:8786069, ECO:0000269PubMed:8940268, ECO:0000269PubMed:9272171}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in urine. Detected in testis, brain and placenta (at protein level). Detected in kidney and liver. {ECO:0000269PubMed:8399327}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004336	galactosylceramidase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006665	sphingolipid metabolic process
GO:0006683	galactosylceramide catabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0044281	small molecule metabolic process