Aliases for GALC Gene
External Ids for GALC Gene
Previous GeneCards Identifiers for GALC Gene
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for GALC Gene
GALC (Galactosylceramidase) is a Protein Coding gene. Diseases associated with GALC include Krabbe Disease and Infantile Krabbe Disease. Among its related pathways are Sphingolipid metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include galactosylceramidase activity.
UniProtKB/Swiss-Prot Summary for GALC Gene
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).