C115002Level 5
TPM2 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human TPM2 wild-type allele is located in the vicinity of 9p13 and is approximately 9 kb in length. This allele, which encodes tropomyosin beta chain protein, is involved in muscle contraction. Mutation of the gene is associated with nemaline myopathy type 4, cap myopathy type 2 and distal arthrogryposis types 1A and 2B.
**Synonyms:** - AMCD1 - Arthrogryposis Multiplex Congenital, Distal, Type 1 Gene - DA1 - DA2B - HEL-S-273 - NEM4 - Nemaline Myopathy Type 4 Gene - TMSB - Tropomyosin 2 (Beta) wt Allele - Tropomyosin, Skeletal Muscle Beta Gene
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