Primary Identifier | MGI:1919834 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 72584 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin protein ligase binding activity. Predicted to contribute to damaged DNA binding activity. Involved in several processes, including astrocyte differentiation; protein polyubiquitination; and ubiquitin-dependent protein catabolic process. Acts upstream of or within positive regulation of G1/S transition of mitotic cell cycle and positive regulation of protein catabolic process. Part of Cul4A-RING E3 ubiquitin ligase complex and Cul4B-RING E3 ubiquitin ligase complex. Is expressed in brain; cerebral cortex; cerebral cortex ventricular layer; and liver. Used to study intellectual disability. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Cabezas type. Orthologous to human CUL4B (cullin 4B). PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit impaired spatial learning and memory, increased susceptibility to PTZ-induced seizures, abnormal dendrite morphology on hippocampal neurons. Mice homozygous for a null allele exhibitembryonic lethality and abnormal placenta. [provided by MGI curators] |