| Primary Identifier | MGI:95414 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 13872 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP hydrolysis activity and promoter-specific chromatin binding activity. Acts upstream of or within UV protection and transcription elongation by RNA polymerase I. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase II transcription regulator complex; nucleotide-excision repair factor 3 complex; and transcription preinitiation complex. Is expressed in several structures, including brain; eye; liver; oral region epithelium; and tooth. Used to study xeroderma pigmentosum group B. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; photosensitive trichothiodystrophy 2; trichothiodystrophy; xeroderma pigmentosum; and xeroderma pigmentosum group B. Orthologous to human ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit). PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [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
