C138124Level 5
MYBPC3 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human MYBPC3 wild-type allele is located in the vicinity of 11p11.2 and is approximately 21 kb in length. This allele, which encodes myosin-binding protein C, cardiac-type, plays a role in cardiac muscle cell contraction. Mutation of the gene is associated with hereditary hypertrophic cardiomyopathy.
**Synonyms:** - CMD1MM - CMH4 - FHC - LVNC10 - MYBP-C - Myosin Binding Protein C, Cardiac wt Allele
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