| Primary Identifier | MGI:1916867 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 69617 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity and zinc ion binding activity. Predicted to be involved in protein processing. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; genitourinary system; and skeletal musculature. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 30. Orthologous to human PITRM1 (pitrilysin metallopeptidase 1). PHENOTYPE: Homozygous null mice show complete preweaning lethality. Heterozygotes show progressive ataxia, neurodegeneration, and accumulation of amyloid beta deposits. Mitochondria show impaired degradation rate of amyloid beta. [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
