| 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 7.0.0) Predicted to enable metalloendopeptidase activity. Involved in protein autoprocessing. 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
