VAPB wt Allele

Preferred Label : VAPB wt Allele;

NCIt synonyms : VAMP (Vesicle-Associated Membrane Protein)-Associated Protein B and C wt Allele; VAMP-B/VAMP-C; ALS8; VAP-B; VAP-C; VAPC; UNQ484/PRO983; VAMP-B; VAMP-C; VAP-B/VAP-C; DVAP33A, Drosophila, Homolog of Gene;

NCIt definition : Human VAPB wild-type allele is located in the vicinity of 20q13.33 and is approximately 62 kb in length. This allele, which encodes vesicle-associated membrane protein-associated protein B and vesicle-associated membrane protein-associated protein C, is involved in the mediation of the response to unfolded proteins. Mutation of the gene is associated with amyotrophic lateral sclerosis 8 and autosomal dominant adult proximal spinal muscular atrophy (SMAPAD).;

GenBank Accession Number : AF086628;

Details

Origin ID

C124936;

UMLS CUI

C4085183;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 8 [OMIM Phenotype]
- VAMP associated protein B and C [ORDO Gene]
- Vamp-associated protein b and C [OMIM gene]
- amyotrophic lateral sclerosis 8 [MeSH Supplementary Concept]
- amyotrophic lateral sclerosis type 8 [DO Concept]
- parvicellular part of ventral anterior nucleus [UBERON concept]
OMIM relation
- Vamp-associated protein b and C [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 20q13.33 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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