| Primary Identifier | MGI:88115 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 11946 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables ATP binding activity and proton-transporting ATP synthase activity, rotational mechanism. Acts upstream of or within lipid metabolic process; proton motive force-driven ATP synthesis; and proton transmembrane transport. Located in membrane and mitochondrion. Is expressed in several structures, including alimentary system; heart; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 22; mitochondrial complex V (ATP synthase) deficiency nuclear type 4A; and mitochondrial complex V (ATP synthase) deficiency nuclear type 4B. Orthologous to human ATP5F1A (ATP synthase F1 subunit alpha). PHENOTYPE: Mice carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels. [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
