Entrez gene ID | | 2581 |
Official gene symbol | | GALC |
Full name | | galactosylceramidase |
Aliases | | ,-, |
Gene 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] |
Location | | Chromosome: 14 Locus: 14q31 |
Gene position | | 88459907 - 88399358 Map Viewer |
Gene orientation | | minus |
Gene size | | 60550 bp |
Gene sequence |
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