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galactosylceramidase
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| Identifiers | |
| Symbol | GALC |
| Entrez | 2581 |
| HUGO | 4115 |
| OMIM | 606890 |
| RefSeq | NM_000153 |
| UniProt | P54803 |
| Other data | |
| EC number | 3.2.1.46 |
| Locus | Chr. 14 q31 |
Galactosylceramidase (or galactocerebrosidase)[1] is an enzyme which removes galactose from ceramide derivatives (galactocerebrosides).
Pathology
A deficiency is associated with Krabbe disease.
References
- ^ 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:. PMID 17403939. http://www.fasebj.org/cgi/pmidlookup?view=long&pmid=17403939.
External links
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