| Primary Identifier | MGI:1929511 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 54405 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of respiratory chain complex I. Is active in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; central nervous system; cranium; respiratory system; and sensory organ. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in nuclear type mitochondrial complex I deficiency 12. Orthologous to human NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1). PHENOTYPE: Males hemizygous for an S55A amino acid substitution show hypoactivity, decreased food intake, basal metabolism, respiratory exchange ratio, oxygen consumption, energy expenditure and heme levels, Purkinje cell degeneration and premature death, whereas homozygous females show an extended lifespan. [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
