Galactosylceramidase
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(Redirected from GALC)
| Galactosylceramidase | |||||||||
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| Identifiers | |||||||||
| EC number | 3.2.1.46 | ||||||||
| CAS number | Template:CAS | ||||||||
| 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 / EGO | ||||||||
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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
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| Galactosylceramidase | |||||||||||||
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| Identifiers | |||||||||||||
| Symbol | GALC | ||||||||||||
| External IDs | OMIM: 606890 MGI: 95636 HomoloGene: 124 GeneCards: GALC Gene | ||||||||||||
| EC number | 3.2.1.46 | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 2581 | 14420 | |||||||||||
| Ensembl | ENSG00000054983 | ENSMUSG00000021003 | |||||||||||
| UniProt | P54803 | P54818 | |||||||||||
| RefSeq (mRNA) | NM_000153 | NM_008079 | |||||||||||
| RefSeq (protein) | NP_000144 | NP_032105 | |||||||||||
| Location (UCSC) | Chr 14: 87.84 – 87.99 Mb |
Chr 12: 98.2 – 98.26 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Krabbe disease
- OMIM entries on Krabbe disease
- Galactosylceramidase at the US National Library of Medicine Medical Subject Headings (MeSH)
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