| Primary Identifier | MGI:1096879 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 14297 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Involved in [4Fe-4S] cluster assembly. Acts upstream of or within several processes, including adult walking behavior; muscle cell cellular homeostasis; and negative regulation of organ growth. Located in mitochondrion. Part of mitochondrial [2Fe-2S] assembly complex. Is expressed in several structures, including brain; cartilage condensation; heart; hemolymphoid system; and lower jaw incisor. Used to study Friedreich ataxia. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; glioblastoma; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin). PHENOTYPE: Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively. Homozygosity for the p.G127V mutation leads to increased pre-weaning mortality and affects cell cycles and mitochondrial morphology and physiology. [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
