TNNC1 troponin C1, slow skeletal and cardiac type
Gene ID: 7134, updated on 5-Mar-2024Gene type: protein coding
Also known as: TNC; TN-C; TNNC; CMD1Z; CMH13
- See all available tests in GTR for this gene
- Go to complete Gene record for TNNC1
- Go to Variation Viewer for TNNC1 variants
Summary
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. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dilated cardiomyopathy 1Z | See labs |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. GeneReviews: Not available | |
| Hypertrophic cardiomyopathy 13 | See labs |
| Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available |
Genomic context
- Location:
- 3p21.1
- Sequence:
- Chromosome: 3; NC_000003.12 (52451100..52454041, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TNNC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TNNC1 database
- Variation ViewerRelated Variants
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