ACTC1 wt Allele

Preferred Label : ACTC1 wt Allele;

NCIt synonyms : ACTC; Actin Alpha Cardiac Muscle 1 wt Allele; LVNC4; Actin, Alpha, Cardiac Muscle Gene; CMD1R; CMH11; Actin, Alpha Cardiac Muscle 1 Gene; ASD5;

NCIt definition : Human ACTC1 wild-type allele is located in the vicinity of 15q14 and is approximately 5 kb in length. This allele, which encodes actin, alpha cardiac muscle 1 protein, plays a role in the structure of microfilaments. Mutation of the gene is associated with atrial septal defect 5, dilated cardiomyopathy 1R, hypertrophic cardiomyopathy 11 and left ventricular noncompaction 4.;

NCI Metathesaurus CUI : CL1794259;

GenBank Accession Number : BC009978;

Details

Origin ID

C189073;

UMLS CUI

C5702833;

Automatic exact mappings (from CISMeF team)
- Atrial septal defect 5 [OMIM Phenotype]
- Cardiomyopathy, dilated, 1r [OMIM Phenotype]
- atrial heart septal defect 5 [DO Concept]
- dilated cardiomyopathy 1R [DO Concept]
- hypertrophic cardiomyopathy 11 [DO Concept]
OMIM relation
- Actin, alpha, cardiac muscle [OMIM gene]
See also inter- (CISMeF)
- Cardiomyopathy, familial hypertrophic, 11 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Actin, alpha, cardiac muscle [OMIM gene]
- actin alpha cardiac muscle 1 [ORDO Gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q14 [NCIt concept]
gene_is_element_in_pathway
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cardiac Muscle Contraction [NCIt concept]
- Cell Motility [NCIt concept]
- Cell Movement [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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