| Primary Identifier | MGI:1931237 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 80707 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables enzyme binding activity. Contributes to transcription coactivator activity. Involved in cellular response to transforming growth factor beta stimulus; positive regulation of extrinsic apoptotic signaling pathway; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including apoptotic signaling pathway; osteoblast differentiation; and positive regulation of extrinsic apoptotic signaling pathway in absence of ligand. Located in mitochondrion and nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including adrenal gland; central nervous system; genitourinary system; hemolymphoid system gland; and skeleton. Used to study autosomal recessive spinocerebellar ataxia 12. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 12; developmental and epileptic encephalopathy 28; esophagus squamous cell carcinoma; and squamous cell carcinoma. Orthologous to human WWOX (WW domain containing oxidoreductase). PHENOTYPE: Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. Homozygosity for the p.P47T mutation affects brain morphology and leads to seizures, motor, anxiety and social deficits and reduced lifespan. [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
