MYH3 wt Allele

**Semantic type:** Gene or Genome

**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.

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