Galactosylceramidase | |||||||
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Identifiers | |||||||
EC number | 3.2.1.46 | ||||||
CAS number | 9027-89-8 | ||||||
Databases | |||||||
IntEnz | IntEnz view | ||||||
BRENDA | BRENDA entry | ||||||
ExPASy | NiceZyme view | ||||||
KEGG | KEGG entry | ||||||
MetaCyc | metabolic pathway | ||||||
PRIAM | profile | ||||||
PDB structures | RCSB PDB PDBe PDBsum | ||||||
Gene Ontology | AmiGO / EGO | ||||||
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galactosylceramidase | |||||||||||||
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Identifiers | |||||||||||||
Symbol | GALC | ||||||||||||
External IDs | OMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC Gene | ||||||||||||
EC number | 3.2.1.46 | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 2581 | 14420 | |||||||||||
Ensembl | ENSG00000054983 | ENSMUSG00000021003 | |||||||||||
UniProt | P54803 | P54818 | |||||||||||
RefSeq (mRNA) | NM_001037525 | NM_008079 | |||||||||||
RefSeq (protein) | NP_001032614 | NP_032105 | |||||||||||
Location (UCSC) | Chr 14: 87.47 – 87.53 Mb |
Chr 12: 99.44 – 99.5 Mb |
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PubMed search | [1] | [2] |
Galactosylceramidase (or galactocerebrosidase) is an enzyme that in humans is encoded by the GALC gene.[1][2] Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives (galactocerebrosides).
Contents |
Galactosylceramidase is a lysosomal protein which hydrolyzes the galactose ester bonds of galactocerebroside, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1]
Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy.[1]
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