Primary Identifier | MGI:1100494 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 319955 |
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 ATP binding activity; ATP-dependent chromatin remodeler activity; and protein tyrosine kinase activator activity. Acts upstream of or within several processes, including DNA repair; intracellular signal transduction; and photoreceptor cell maintenance. Predicted to be located in nuclear body; nucleolus; and site of DNA damage. Predicted to be part of B-WICH complex and transcription elongation factor complex. Predicted to be active in nucleus. Is expressed in genitourinary system. Used to study Cockayne syndrome. Human ortholog(s) of this gene implicated in several diseases, including Cockayne syndrome (multiple); De Sanctis-Cacchione syndrome; UV-sensitive syndrome; gastrointestinal system cancer (multiple); and respiratory system cancer (multiple). Orthologous to human ERCC6 (ERCC excision repair 6, chromatin remodeling factor). PHENOTYPE: Homozygous mutant mice exhibit UV sensitivity, inactivation of transcription-coupled repair, increased incidence of induced skin and eye tumors, circling behavior, impaired coordination and lower body weight. [provided by MGI curators] |