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 7.3.0) 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] |