Primary Identifier | MGI:107932 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 407785 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within several processes, including DNA damage response, signal transduction by p53 class mediator; mesenchymal stem cell proliferation; and mitochondrial respiratory chain complex I assembly. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in limb; respiratory system; and skeleton. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in cervical cancer and nuclear type mitochondrial complex I deficiency 9. Orthologous to human NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6). PHENOTYPE: Mice homozygous for a hypomorph allele display premature death asscoiated with rapid weight loss and cardiac failure. These mice have enlarged hearts with impaired function and mitochondrial abnormalities. [provided by MGI curators] |