| 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 8.0.0) Enables galactosylceramidase activity. Acts upstream of or within galactosylceramide catabolic process and myelination. Located in mitochondrion. Is expressed in brain; hippocampus; 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] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
