Gene superfamily: troponins; (@TNNC @TNNI @TNNT)
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FUN |
The troponin complex serves as a calcium-sensitive switch that regulates striated muscle contraction. This process is regulated by the calcium-ion-sensitive, multiprotein complex troponin and the fibrous protein tropomyosin (GEM:15q221/TPM1). As a result of calcium-ion uptake by troponin C (FAM:TNNC/00.0), the elements of the muscle thin filament undergo a series of allosteric changes which allow the interaction of actin (FAM:ACT/00.0) with myosin (FAM:MY/00.0), the hydrolysis of ATP, and the generation of tension (Bhavsar-1996)." |
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STR |
The troponin complex of the thin filaments of striated muscle is composed of 3 component polypeptides: troponin C (Ca2+-binding; FAM:TNNC/00.0), troponin T (tropomyosin-binding; FAM:TNNT/00.0), and troponin I (inhibitory; FAM:TNNC/00.0)." |
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PAT |
Two members of the TNN multigene family are proved to cause the known pathology - familial hypertrophic cardiomyopathy (GEM:01q32/TNNT2; GEM:19^/TNNI3). The disease, the most common cause of sudden death in the young, is characterized by ventricular hypertrophy accompanied by myofibrillar disarrays." |
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HET |
Familial hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease. The disease is linked to the next loci: CMH1 - GEM:14q1/MYH7 CMH2 - GEM:01q32/TNNT2 (troponin T2, cardiac) CMH3 - GEM:15q221/TPM1 (tropomyosin 1; alpha) CMH4 - GEM:11p112/MYBPC3 (myosin-binding protein C, cardiac) CMH5 - GEM:00.0/CMH5 (cardiomyopathy, hypertrophic 5) CMH6 - GEM:07q3/CMH6 (cardiomyopathy, hypertrophic 6) CMH7 - GEM:19^/TNNI3 (troponin I3, cardiac)" |
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REF |
FUN,SEQ "Bhavsar PK &: Genomics, 35, 11-23, 1996 REV,MOP,EVO "Nakayama S &: J Mol Evol, 34, N5, 416-448, 1992 REV,STR,MOP "Reinach FC &: Cell Struct Funct, 22, N1, 219-223, 1997 REV,PAT,HET "Schwartz K: Pathol Biol, 45, N3, 213-217, 1997 REV,MOP,FUN "Tobacman LS: Annu Rev Physiol, 58, 447-481, 1996 |
