Galactosylceramidase

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Galactosylceramidase
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

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).

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]

References[edit]

Galactosylceramidase
Identifiers
Symbol GALC
External IDs OMIM606890 MGI95636 HomoloGene124 GeneCards: GALC Gene
EC number 3.2.1.46
Orthologs
Species Human Mouse
Entrez 2581 14420
Ensembl ENSG00000054983 ENSMUSG00000021003
UniProt P54803 P54818
RefSeq (mRNA) NM_000153 NM_008079
RefSeq (protein) NP_000144 NP_032105
Location (UCSC) Chr 14:
88.3 – 88.46 Mb
Chr 12:
98.2 – 98.26 Mb
PubMed search [1] [2]

Further reading[edit]

External links[edit]