Gene Review:
GALC - galactosylceramidase
Canis lupus familiaris
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Disease relevance of GALC
- Globoid cell leukodystrophy (GLD) or Krabbe disease is an autosomal recessively inherited neurological disease caused by mutations in the gene coding for the lysosomal enzyme galacto-cerebrosidase (GALC) [1].
High impact information on GALC
- These galactosphingolipids are normally synthesized during active myelination, and psychosine accumulates in individuals with very low GALC activity [1].
- GALC is responsible for the degradation of specific galactolipids, including several that are important in the production of compact, stable myelin [1].
References
- Murine, canine and non-human primate models of Krabbe disease. Wenger, D.A. Molecular medicine today. (2000) [Pubmed]
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