Primary Identifier | MGI:99135 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 22590 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity; protein domain specific binding activity; and protein homodimerization activity. Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; nucleotide-excision repair; and positive regulation of transcription initiation by RNA polymerase II. Located in nucleus. Is expressed in forelimb bud. Used to study xeroderma pigmentosum group A. Human ortholog(s) of this gene implicated in xeroderma pigmentosum and xeroderma pigmentosum group A. Orthologous to human XPA (XPA, DNA damage recognition and repair factor). PHENOTYPE: Homozygous null mutants are highly susceptible to tumors induced by UV (skin and ocular tumors), 7,12-dimethylbenz[a]anthracene (skin tumors), benzo[a]pyrene (pulmonary tumors), 4-nitroquinoline-1-oxide (tongue tumors) and aflatoxin B(1) (liver tumors). [provided by MGI curators] |