| Primary Identifier | MGI:1919241 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 71991 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to ubiquitin-protein transferase activity. Acts upstream of or within response to UV and response to X-ray. Predicted to be located in nuclear matrix and perikaryon. Predicted to be part of Cul4A-RING E3 ubiquitin ligase complex and nucleotide-excision repair complex. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in Cockayne syndrome; Cockayne syndrome A; and UV-sensitive syndrome. Orthologous to human ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit). PHENOTYPE: Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration. [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
