| Primary Identifier | MGI:103557 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 22591 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and damaged DNA binding activity. Involved in UV-damage excision repair and nucleotide-excision repair. Acts upstream of or within mitotic intra-S DNA damage checkpoint signaling; pyrimidine dimer repair by nucleotide-excision repair; and response to UV-B. Located in nucleus. Is active in site of DNA damage. Is expressed in embryo. Used to study lung cancer and xeroderma pigmentosum group C. Human ortholog(s) of this gene implicated in pancreatic cancer; serous cystadenocarcinoma; xeroderma pigmentosum; and xeroderma pigmentosum group C. Orthologous to human XPC (XPC complex subunit, DNA damage recognition and repair factor). PHENOTYPE: Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair. [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
