Troponin C | |
Test Of: | Troponin |
Troponin C is a protein which is part of the troponin complex. It contains four calcium-binding EF hands, although different isoforms may have fewer than four functional calcium-binding subdomains. It is a component of thin filaments, along with actin and tropomyosin. It contains an N lobe and a C lobe. The C lobe serves a structural purpose and binds to the N domain of troponin I (TnI). The C lobe can bind either Ca2+ or Mg2+. The N lobe, which binds only Ca2+, is the regulatory lobe and binds to the C domain of troponin I after calcium binding.
Troponin C, slow skeletal and cardiac muscles | |
Symbol: | TNNC1 |
Hgncid: | 11943 |
Omim: | 191040 |
Refseq: | NM_003280 |
Uniprot: | P63316 |
Chromosome: | 3 |
Arm: | p |
Band: | 21.1 |
Troponin C, skeletal muscle | |
Symbol: | TNNC2 |
Hgncid: | 11944 |
Omim: | 191039 |
Refseq: | NP_003270.1 |
Uniprot: | P02585 |
Chromosome: | 20 |
Arm: | q |
Band: | 13.12 |
The tissue specific subtypes are:
Point mutations can occur in troponin C inducing alterations to Ca2+ and Mg2+ binding and protein structure,[1] leading to abnormalities in muscle contraction.[2] [3] In cardiac muscle, they are related to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
These known point mutations are: