
| Troponin C | |
|---|---|
| Test of | Troponin |

Troponin C is a protein which is part of thetroponin complex. It contains four calcium-bindingEF hands, although different isoforms may have fewer than four functional calcium-binding subdomains. It is a component ofthin filaments, along withactin andtropomyosin. It contains an N lobe and a C lobe. The C lobe serves a structural purpose and binds to the N domain oftroponin 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 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | TNNC1 | ||||||
| HGNC | 11943 | ||||||
| OMIM | 191040 | ||||||
| RefSeq | NM_003280 | ||||||
| UniProt | P63316 | ||||||
| Other data | |||||||
| Locus | Chr. 3p21.1 | ||||||
| |||||||
| Troponin C, skeletal muscle | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | TNNC2 | ||||||
| HGNC | 11944 | ||||||
| OMIM | 191039 | ||||||
| RefSeq | NP_003270.1 | ||||||
| UniProt | P02585 | ||||||
| Other data | |||||||
| Locus | Chr. 20q13.12 | ||||||
| |||||||
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 todilated cardiomyopathy (DCM) andhypertrophic cardiomyopathy (HCM).
These known point mutations are: