FLNC wt Allele

Preferred Label : FLNC wt Allele;

NCIt synonyms : ABPL; ABPA; FLJ10186; ABP280A; ABP-280; Actin Binding Protein 280 Gene; Filamin C, Gamma (Actin Binding Protein 280) Gene; FLN2; Filamin C, Gamma wt Allele;

NCIt definition : Human FLNC wild-type allele is located within 7q32-q35 and is approximately 29 kb in length. This allele, which encodes filamin-C protein, is involved in the modulation of both myogenesis and muscle fiber structure. Mutation of the gene is associated with filamenopathy.;

GenBank Accession Number : AB208865;

PubMed : 20393555;

Details

Origin ID

C88952;

UMLS CUI

C2982413;

False automatic mappings
- Aspergillosis [ICD-11 Category]
OMIM relation
- Filamin C [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Myofibrillar Myopathy [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Myogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients