The TNNI3 gene homepage
| General information |
| Gene symbol |
TNNI3 |
| Gene name |
troponin I type 3 (cardiac) |
| Chromosome |
19 |
| Chromosomal band |
q13.4 |
| Imprinted |
- |
| Genomic reference |
NG_007866.2 |
| Transcript reference |
NM_000363.4 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
50 |
| Unique public DNA variants reported |
41 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008]
Also known as： CMH7; RCM1; cTnI; CMD2A; TNNC1; CMD1FF |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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