GALC Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | GALC |
| Official Name | galactosylceramidase [Source:HGNC Symbol;Acc:HGNC:4115] |
| Ensembl ID | ENSG00000054983 |
| Bio databases IDs | |
| Aliases | galactosylceramidase, Krabbe disease |
| Synonyms | 2310068B06Rik, A930008M05Rik, Gacy, galactosylceramidase, twi, twitcher |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GALC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- galactosylceramidase
- Glycosyl hydrolase family 30 TIM-barrel domain
- enzyme
- Glycosyl hydrolase family 59
- Glycosyl hydrolase family 59 central domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- galactosylceramide beta-galactosidase deficiency
- inflammatory bowel disease
- Parkinson disease
- Crohn disease
- hereditary disorder
- metabolic syndrome X
- Fabry disease
- systemic lupus erythematosus
- multiple sclerosis
role in cell
- expression in
- replication in
- accumulation in
- myelination
- rearrangement
- fragmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- lysosome
- Golgi Apparatus
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GALC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycosphingolipid catabolic process
- myelination
- galactosylceramide catabolic process
Cellular Component
Where in the cell the gene product is active
- lysosomal lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- galactosylceramidase activity