Primary Identifier | MGI:1261428 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 14004 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor binding activity and sequence-specific DNA binding activity. Predicted to be involved in mitochondrion organization; positive regulation of transcription by RNA polymerase II; and regulation of cellular response to hypoxia. Located in mitochondrion. Is expressed in several structures, including cerebral cortex; diaphragm; gonad; head mesenchyme; and vertebral axis musculature. Human ortholog(s) of this gene implicated in Parkinson's disease 22. Orthologous to several human genes including CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). PHENOTYPE: Homozygous knockout affects autophagy and mitochondrial morphology and promotes Lewy body formation in the brain, resulting in impaired motor coordination in old mice. [provided by MGI curators] |