| Primary Identifier | MGI:98834 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 22059 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables MDM2/MDM4 family protein binding activity; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including intrinsic apoptotic signaling pathway; positive regulation of programmed cell death; and regulation of transcription by RNA polymerase II. Located in mitochondrion and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Used to study several diseases, including CHARGE syndrome; Li-Fraumeni syndrome 1; diffuse large B-cell lymphoma; glioblastoma; and osteosarcoma. Human ortholog(s) of this gene implicated in several diseases, including Li-Fraumeni syndrome (multiple); carcinoma (multiple); hematologic cancer (multiple); open-angle glaucoma (multiple); and pancreatic cancer (multiple). Orthologous to human TP53 (tumor protein p53). PHENOTYPE: Mutations in this locus affect cell-cycle regulation and apoptosis. Null homozygotes show high, early-onset tumor incidence; some have persistent hyaloid vasculature and cataracts. Truncated or temperature-sensitive alleles cause early aging phenotypes. [provided by MGI curators] |