TMEM43 wt Allele

Preferred Label : TMEM43 wt Allele;

NCIt synonyms : UNQ2564/PRO6244; ARVD5; ARVC5; DKFZp586G1919; LUMA; EDMD7; Transmembrane Protein 43 wt Allele; MGC3222;

NCIt definition : Human TMEM43 wild-type allele is located in the vicinity of 3p25.1 and is approximately 19 kb in length. This allele, which encodes transmembrane protein 43, may be involved in nuclear membrane structure. Mutation of the gene is associated with arrhythmogenic right ventricular dysplasia 5 and Emery-Dreifuss muscular dystrophy 7.;

NCI Metathesaurus CUI : CL1407486;

GenBank Accession Number : BC008054;

Details

Origin ID

C173494;

UMLS CUI

C5401216;

Automatic exact mappings (from CISMeF team)
- Arrhythmogenic right ventricular dysplasia, familial, 5 [OMIM Phenotype]
- Transmembrane protein 43 [OMIM gene]
- arrhythmogenic right ventricular dysplasia 5 [DO Concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy 7 [DO Concept]
- transmembrane protein 43 [ORDO Gene]
OMIM relation
- Transmembrane protein 43 [OMIM gene]
See also inter- (CISMeF)
- Emery-dreifuss muscular dystrophy 7, autosomal dominant [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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