Primary Identifier | MGI:103582 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 22592 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including DNA binding activity; RNA polymerase II complex binding activity; and protein homodimerization activity. Acts upstream of or within UV protection; determination of adult lifespan; and nucleotide-excision repair. Predicted to be located in chromosome. Predicted to be part of DNA replication factor A complex and nucleotide-excision repair complex. Predicted to be active in nucleus. Is expressed in central nervous system; genitourinary system; and retina. Used to study xeroderma pigmentosum group G. Human ortholog(s) of this gene implicated in several diseases, including cerebrooculofacioskeletal syndrome 3; melanoma; respiratory system cancer (multiple); stomach cancer; and xeroderma pigmentosum group G. Orthologous to human ERCC5 (ERCC excision repair 5, endonuclease). PHENOTYPE: Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation. [provided by MGI curators] |