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Galactosylceramidase

From Wikipedia, the free encyclopedia

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

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]

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.