DISEASES

Disease-gene associations mined from literature

Literature associating TNNC1 and restrictive cardiomyopathy

TNNC1 [ENSP00000232975]

Troponin C, slow skeletal and cardiac muscles; Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments; EF-hand domain containing

Synonyms:  TNNC1,  TNNC1p,  hTNNC1,  C9JDI3,  P63316 ...

Linkouts:  STRING  Pharos  UniProt  OMIM