Galactosylceramidase

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
Identifiers
EC number3.2.1.46
CAS number9027-89-8
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO

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

GALC
Identifiers
AliasesGALC, entrez:2581, galactosylceramidase
External IDsOMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC
Gene location (Human)
Chr.Chromosome 14 (human)[1]
Band14q31.3Start87,837,820 bp[1]
End87,993,665 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

2581

14420

Ensembl

ENSG00000054983

ENSMUSG00000021003

UniProt

P54803

P54818

RefSeq (mRNA)

NM_000153
NM_001037525
NM_001201401
NM_001201402

NM_008079

RefSeq (protein)

NP_000144
NP_001188330
NP_001188331

NP_032105

Location (UCSC)Chr 14: 87.84 – 87.99 MbChr 12: 98.2 – 98.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Further reading


  1. GRCh38: Ensembl release 89: ENSG00000054983 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000021003 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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