| Primary Identifier | MGI:1277152 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 381038 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endopeptidase activity. Involved in several processes, including mitochondrial fusion; negative regulation of apoptotic signaling pathway; and regulation of mitophagy. Located in mitochondrial inner membrane. Used to study Leigh disease. Human ortholog(s) of this gene implicated in Leber hereditary optic neuropathy; coronary artery disease; hyperinsulinism; myopia; and type 2 diabetes mellitus. Orthologous to human PARL (presenilin associated rhomboid like). PHENOTYPE: Homozygous null mice show stunted growth, lymphocyte and neuron apoptosis, faster apoptotic cristae remodeling and cytochrome c release from mitochondria, dyspnea, cryptorchism, reduced testes and epididymi, kyphosis and premature death due to progressive cachexia sustained by multisystemic atrophy. [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
