Gene Symbol | VCP |
Entrez Gene ID | 7415 |
Full Name | valosin containing protein |
Synonyms | CDC48,TERA,p97 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3); Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3); Charcot-Marie-Tooth disease, type 2Y, 616687 (3) |