| Primary Identifier | MGI:95412 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13870 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables TFIID-class transcription factor complex binding activity and promoter-specific chromatin binding activity. Involved in positive regulation of t-circle formation and t-circle formation. Acts upstream of or within several processes, including DNA metabolic process; UV protection; and determination of adult lifespan. Is active in nucleus. Is expressed in several structures, including brain; genitourinary system; liver; skin; and spleen. Used to study XFE progeroid syndrome. Human ortholog(s) of this gene implicated in several diseases, including azoospermia; carcinoma (multiple); cerebrooculofacioskeletal syndrome 4; gastrointestinal system cancer (multiple); and hematologic cancer (multiple). Orthologous to human ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit). PHENOTYPE: Nullizygous mutations result in growth and liver failure, nuclear anomalies and postnatal death, and may lead to spleen hypoplasia, altered isotype switching, B cell hypoproliferation, dystonia, ataxia, renal failure, sarcopenia, kyphosis, early replicative aging and sensitivity to oxidative stress. [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
