Troponin C Type 1, Slow (TNNC1)

TNC; TroponinC, Cardiac; Troponin C, slow skeletal and cardiac muscles

SPN	T554
HGNC	11943
MGI	98779
PubMed	22815480
RGD	1309921
UniProt	P63316
Wiki	TNNC1

Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z.Using a human/rodent monochromosomal mapping panel, Song et al. (1996) mapped a human symbolized TNNC1 to chromosome 3 by PCR. Chromosome 3 somatic cell hybrids with various rearrangements were used for finer mapping to 3p21.3-p14.3.

Reference

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"Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C."
FEBS J. 272:6087-6097(2005) [PubMed] [Europe PMC] [Abstract]

"Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C."
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"A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy."
J. Biol. Chem. 284:19090-19100(2009) [PubMed] [Europe PMC] [Abstract]