Primary Identifier | MGI:1332235 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 18181 |
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 activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Acts upstream of or within mitochondrion organization. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; connective tissue; genitourinary system; skeleton; and telencephalon. Human ortholog(s) of this gene implicated in Huntington's disease. Orthologous to human NRF1 (nuclear respiratory factor 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with decreased cellular proliferation and mitochondrial DNA content. Mice homozygous for a conditional allele activated in the retina exhibit RGC degeneration associated with abnormal mitochondria. [provided by MGI curators] |