| Entrez Gene ID | 2581 |
|---|---|
| Official Gene Symbol | GALC (GeneCards) |
| Full name | galactosylceramidase |
| Location | 14q31.3 |
| Other ids | Vega : OTTHUMG00000028646 MIM : 606890 HGNC : HGNC:4115 Ensembl : ENSG00000054983 |
| Other names | None |
| Summary | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18623 | 2581 | GALC | 14 | 88408301 | 88408301 | Cockayne syndrome | HiSeq X Ten |