MYH3 wt Allele

Preferred Label : MYH3 wt Allele;

NCIt synonyms : Myosin, Skeletal, Heavy Chain, Embryonic 1 Gene; Myosin Heavy Chain 3 wt Allele; MYHC-EMB; Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic Gene; Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic Gene; CPSFS1A; MYHSE1; CPSFS1B; DA2B3; DA2A; DA2B; SMHCE; CPSKF1A; CPSKF1B; DA8; HEMHC;

NCIt definition : Human MYH3 wild-type allele is located in the vicinity of 17p13.1 and is approximately 50 kb in length. This allele, which encodes myosin-3 protein, is involved in fetal muscle contraction. Mutation of the gene is associated with distal arthrogryposis types 2A (Freeman-Sheldon) and 2B3 (Sheldon-Hall) and contractures, pterygia, and spondylocarpotarsal fusion syndrome types 1A and 1B.;

NCI Metathesaurus CUI : CL1926510;

GenBank Accession Number : NM_002470;

Details

Origin ID

C203836;

UMLS CUI

C5890851;

OMIM relation
- Myosin, heavy chain 3, skeletal muscle, embryonic [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.1 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [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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