| Primary Identifier | MGI:95413 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 13871 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 5'-3' DNA helicase activity; damaged DNA binding activity; and protein-macromolecule adaptor activity. Acts upstream of or within several processes, including hemopoiesis; nervous system development; and rRNA metabolic process. Located in nucleus. Is expressed in central nervous system; eye; hair follicle; and liver. Used to study photosensitive trichothiodystrophy and xeroderma pigmentosum group D. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Orthologous to human ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). PHENOTYPE: Homozygotes for a targeted null mutation die prior to implantation. Homozygotes for a targeted missense mutation exhibit brittle and greying hair, cachexia, infertility, osteosclerosis, osteoporosis, reduced lifespan, UV sensitivity, and skin defects. [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
