| Primary Identifier | MGI:1202384 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 13194 |
| 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 WD40-repeat domain binding activity; cullin family protein binding activity; and ubiquitin ligase complex scaffold activity. Involved in several processes, including cellular response to UV; positive regulation of gluconeogenesis; and ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including Wnt signaling pathway; negative regulation of apoptotic process; and negative regulation of reproductive process. Part of Cul4A-RING E3 ubiquitin ligase complex. Is expressed in several structures, including blastocyst; early embryo; germ cell of gonad; otocyst; and spleen. Human ortholog(s) of this gene implicated in communication disorder. Orthologous to human DDB1 (damage specific DNA binding protein 1). PHENOTYPE: Complete deletion of this gene results in embryonic lethality; conditional mutation causes increased apoptosis in the developing brain, and defects in lens formation. Conditional KO in testis affects Sertoli cell development and leads to reduced sperm count. [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
