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Protein Coding Gene : Galc galactosylceramidase
Primary Identifier  MGI:95636 Organism  mouse, laboratory
Chromosome  12 NCBI Gene Number  14420
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables galactosylceramidase activity. Acts upstream of or within galactosylceramide catabolic process and myelination. Located in mitochondrion. Is expressed in brain and medial ganglionic eminence. Used to study Krabbe disease. Human ortholog(s) of this gene implicated in Krabbe disease. Orthologous to human GALC (galactosylceramidase).
PHENOTYPE: Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA A930008M05 gene,
  • A930008M05Rik,
  • MGI:1925845,
  • galactocerebrosidase,
  • MGD-MRK-9962,
  • Galc,
  • AW413532,
  • AW212969,
  • MGI:1916901,
  • MGD-MRK-15304,
  • MGI:2145024,
  • galactosylceramidase,
  • MGI:2145017,
  • Gacy,
  • MGD-MRK-9951,
  • twitcher,
  • 2310068B06Rik,
  • expressed sequence AW413532,
  • RIKEN cDNA 2310068B06 gene,
  • twi,
  • expressed sequence AW212969
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