| Primary Identifier | MGI:1916847 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 69597 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables metallopeptidase activity. Involved in protein autoprocessing and regulation of calcium import into the mitochondrion. Acts upstream of or within several processes, including mitochondrion organization; nervous system development; and righting reflex. Located in mitochondrial inner membrane. Part of m-AAA complex. Is expressed in central nervous system and sensory organ. Used to study spinocerebellar ataxia type 28. Human ortholog(s) of this gene implicated in optic atrophy 12; spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28. Orthologous to human AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). PHENOTYPE: Mice homozygous for mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration. [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
