Primary Identifier | MGI:1354163 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 50505 |
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. Acts upstream of or within DNA repair; UV protection; and regulation of autophagy. Predicted to be located in chromosome, telomeric region and nucleus. Predicted to be part of ERCC4-ERCC1 complex and nucleotide-excision repair factor 1 complex. Is expressed in central nervous system and retina. Used to study xeroderma pigmentosum group F. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group Q; XFE progeroid syndrome; pancreatic cancer; polyneuropathy due to drug; and xeroderma pigmentosum (multiple). Orthologous to human ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit). PHENOTYPE: Homozygous null mice show impaired growth and do not survive longer than several weeks of age. Cultutred cells obtained from mutant mice were shown to be hypersensitive to UV irradiation. [provided by MGI curators] |