Primary Identifier | MGI:1913293 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 66043 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable proton transmembrane transporter activity. Predicted to contribute to ATP hydrolysis activity and proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in mitochondrial proton-transporting ATP synthase complex assembly and proton motive force-driven mitochondrial ATP synthesis. Predicted to act upstream of or within proton transmembrane transport. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; eye; genitourinary system; integumental system; and nervous system. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 5. Orthologous to human ATP5F1D (ATP synthase F1 subunit delta). PHENOTYPE: Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. In vitro, blastocysts fail to hatch from the zona pellucida after 3 days in culture. [provided by MGI curators] |