MYH6 wt Allele

Preferred Label : MYH6 wt Allele;

NCIt synonyms : Myosin, Heavy Polypeptide 6, Cardiac Muscle, Alpha Gene; Myosin Heavy Chain 6 wt Allele; CMD1EE; MYHCA; Myosin, Cardiac Heavy Chain Gene; Alpha-MHC Gene; Myosin, Heavy Polypeptide 6, Cardiac Muscle, Alpha (Cardiomyopathy, Hypertrophic 1) Gene; SSS3; CMH14; ASD3; MYHC; Myosin, Heavy Chain 6, Cardiac Muscle, Alpha Gene; MYH, Cardiac Gene;

NCIt definition : Human MYH6 wild-type allele is located in the vicinity of 14q11.2 and is approximately 26 kb in length. This allele, which encodes myosin-6 protein, plays a role in atrial muscle cell contraction. Mutation of the gene is associated with atrial septal defect 3, sick sinus syndrome 3, dilated cardiomyopathy 1EE and hypertrophic cardiomyopathy 14.;

NCI Metathesaurus CUI : CL1907141;

GenBank Accession Number : D00943;

Details

Origin ID

C200338;

OMIM relation
- Myosin, heavy chain 6, cardiac muscle, alpha [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q11.2 [NCIt concept]
gene_is_element_in_pathway
- Cardiac Hypertrophy Pathway [NCIt concept]
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Viral Myocarditis Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Cardiac Muscle Contraction [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Myogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients