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]

GALC
Identifiers
Aliases GALC, entrez:2581
External IDs OMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000153
NM_001037525
NM_001201401
NM_001201402

NM_008079

RefSeq (protein)

NP_000144
NP_001188330
NP_001188331

NP_032105.2
NP_032105

Location (UCSC) Chr 14: 87.84 – 87.99 Mb Chr 12: 98.2 – 98.26 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Further reading[edit]

External links[edit]


  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:".