Galactosylceramidase

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Galactosylceramidase
Identifiers
EC no. 3.2.1.46
CAS no. 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 / QuickGO
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PMC articles
PubMed articles
NCBI proteins

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]

Contents

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]

Related Research Articles

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References

  1. 1 2 3 "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
Aliases GALC , entrez:2581, galactosylceramidase
External IDs OMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC
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 Mb Chr 12: 98.17 – 98.23 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Further reading


  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000054983 - Ensembl, May 2017
  2. 1 2 3 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.