Galactosylceramidase

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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 (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

  1. 1.0 1.1 1.2 "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): 2520–7. doi:10.1096/fj.06-6169com. PMID 17403939.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Further reading

External links



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