Galactosylceramidase (or galactocerebrosidase), EC 3.2.1.46, is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.[1]

Galactosylceramidase
Identifiers
EC no.3.2.1.46
CAS no.9027-89-8
Databases
IntEnzIntEnz view
BRENDABRENDA entry
ExPASyNiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins

It is a lysosomal protein, encoded in humans by the GALC gene.[1][2] Mutations in this gene have been associated with Krabbe disease, also known as galactosylceramide lipidosis.[1]

References

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  1. ^ a b c "Entrez Gene: galactosylceramidase".
  2. ^ Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939. S2CID 19511563.
GALC
Identifiers
AliasesGALC, entrez:2581, galactosylceramidase
External IDsOMIM: 606890; MGI: 95636; HomoloGene: 124; GeneCards: GALC; OMA:GALC - orthologs
Orthologs
SpeciesHumanMouse
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

Location (UCSC)Chr 14: 87.84 – 87.99 MbChr 12: 98.17 – 98.23 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Further reading

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000054983Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021003Ensembl, 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.