| Primary Identifier | MGI:107810 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 21780 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables mitochondrial promoter sequence-specific DNA binding activity. Involved in mitochondrial transcription. Acts upstream of or within mitochondrial respiratory chain complex assembly. Located in mitochondrial nucleoid. Is active in mitochondrion. Is expressed in several structures, including brain; branchial arch; genitourinary system; hemolymphoid system; and limb. Used to study Kearns-Sayre syndrome and Parkinson's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; Huntington's disease; Parkinson's disease; amyotrophic lateral sclerosis; and mitochondrial DNA depletion syndrome 15. Orthologous to human TFAM (transcription factor A, mitochondrial). PHENOTYPE: Homozygous null mutants exhibit retarded growth, abnormal somite development, lack of optic discs, cardiac defects and delayed neural development. Mutants die by embryonic day 10.5. [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
