| Primary Identifier | MGI:1349419 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 26926 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including FAD binding activity; NAD(P)H oxidase H2O2-forming activity; and poly-ADP-D-ribose binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; positive regulation of necroptotic process; and protein import into mitochondrial intermembrane space. Acts upstream of or within neuron apoptotic process and regulation of apoptotic DNA fragmentation. Located in cytosol and mitochondrion. Is active in nucleus. Is expressed in several structures, including cerebral cortex; early embryo; long bone epiphyseal plate; retina; and submandibular gland primordium epithelium. Used to study mitochondrial complex I deficiency. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease X-linked recessive 4; X-linked deafness 5; and combined oxidative phosphorylation deficiency 6. Orthologous to human AIFM1 (apoptosis inducing factor mitochondria associated 1). PHENOTYPE: Hemizygous males and homozygous females exhibit variable levels of hair loss and late-onset, progressive, neural degeneration with ataxia, tremors, and loss of cerebellar and retinal cells. The degree of hair loss and ataxia in heterozygous females correlates with the extent of X-inactivation. [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
