| Primary Identifier | MGI:1915068 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 70397 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable mitochondrial proton-transporting ATP synthase complex binding activity. Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. Is expressed in several structures, including brain; gut; nasal cavity epithelium; orbito-sphenoid; and urinary system. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 2. Orthologous to human TMEM70 (transmembrane protein 70). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality during organogenesis associated with severe growth delay, impaired biosynthesis and assembly of ATP synthase, decreased ATP production, oxidative stress, delayed heart development, and altered mitochondrial ultrastructure. [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
