| Primary Identifier | MGI:99919 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 269523 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including ATP hydrolysis activity; K48-linked polyubiquitin modification-dependent protein binding activity; and adenyl ribonucleotide binding activity. Involved in ATP metabolic process; positive regulation of mitochondrial membrane potential; and proteasomal protein catabolic process. Acts upstream of or within aggresome assembly and ubiquitin-dependent protein catabolic process. Located in endoplasmic reticulum membrane. Part of ATPase complex; VCP-NSFL1C complex; and endoplasmic reticulum membrane. Is active in synapse. Is expressed in several structures, including cerebral cortex; early embryo; gonad; gut; and triceps surae muscle. Used to study frontotemporal dementia and inclusion body myopathy with Paget disease of bone and frontotemporal dementia. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2Y; Paget's disease of bone; frontotemporal dementia and/or amyotrophic lateral sclerosis-6; inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1; and inclusion body myositis. Orthologous to human VCP (valosin containing protein). PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. Mice homozygous for a knock-in allele exhibit progressive muscle weakness, myopathy, decreased bone density, increased osteoclast genesis, and seizures. Heterozygosity for p.T262A mutation affects neural stem cells and leads to neurological defects. Heterozygosity for p.A232E mutation reduces sensitivity to diet-induced obesity. [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
