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C221384Level 5

MYH7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MYH7 wild-type allele is located in the vicinity of 14q11.2 and is approximately 23 kb in length. This allele, which encodes myosin-7 protein, plays a role in thick filament formation and muscle contraction. Mutations in the gene are associated with dilated cardiomyopathy 1s (left ventricular noncompaction 5), hypertrophic cardiomyopathy 1, Laing distal myopathy, and myosin storage congenital myopathy types 7a (autosomal dominant) and 7b (autosomal recessive).

**Synonyms:** - CMD1S - CMH1 - CMYO7A - CMYO7B - CMYP7A - CMYP7B - Cardiac Muscle Myosin Heavy Chain 7 Beta Gene - MPD1 - MYHCB - MyHC-Slow Gene - Myopathy, Distal 1 Gene - Myosin 7 Gene - Myosin Heavy Chain 7 wt Allele - Myosin Heavy Chain Beta-Subunit Gene - Myosin, Cardiac, Heavy Chain, Beta Gene - Myosin, Heavy Chain 7, Cardiac Muscle, Beta Gene - Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta Gene - Rhabdomyosarcoma Antigen MU-RMS-40.7A Gene - SPMD - SPMM

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