VCP wt Allele - CISMeF

Preferred Label : VCP wt Allele;

NCIt synonyms : p97; TERA; Yeast Cdc48p Homolog Gene; Valosin Containing Protein wt Allele; CDC48, Yeast, Homolog of Gene; ALS14; IBMPFD;

NCIt definition : Human VCP wild-type allele is located in the vicinity of 9p13.3 and is approximately 17 kb in length. This allele, which encodes transitional endoplasmic reticulum ATPase protein, plays a role in maintenance of both the transitional endoplasmic reticulum and the Golgi apparatus. Mutation of the gene is associated with amyotrophic lateral sclerosis 14 and inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (IBMPFD1).;

GenBank Accession Number : AC004472;

Details

Origin ID

C124933;

UMLS CUI

C4085181;

Automatic exact mappings (from CISMeF team)
- Eukaryotic translation initiation factor 4-gamma, 2 [OMIM gene]
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ORDO Disease]
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [ICD-11 More detail]
- Valosin-containing protein [OMIM gene]
- amyotrophic lateral sclerosis type 14 [DO Concept]
- inclusion body myopathy with Early-Onset paget disease and frontotemporal dementia [MeSH Supplementary Concept]
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia [DO Concept]
- tera [UCUM unit prefix]
- tera [IUPAC Unit Prefix]
- valosin containing protein [ORDO Gene]
OMIM relation
- Valosin-containing protein [OMIM gene]
See also inter- (CISMeF)
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]

Keyword's position in hierarchy(ies) :

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