troponin I, cardiac muscle; cardiac troponin I (TNNI3, TNNC1)
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Function
- troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers Ca+2 sensitivity to striated muscle actomyosin ATPase activity
- binds to actin & tropomyosin
- interacts with TRIM63
Structure
belongs to the troponin I family
Pathology
- defects in TNNI3 are the cause of:
- familial hypertrophic cardiomyopathy type 7
- familial restrictive cardiomyopathy type 1
- dilated cardiomyopathy type 2A
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P19429.html
- ↑ Familial hypertrophic cardiomyopathy mutation database http://www.angis.org.au/Databases/heart/heartbreak.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=TNNI3
Database
- UniProt: http://www.uniprot.org/uniprot/P19429.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7137
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7137
- OMIM: https://mirror.omim.org/entry/115210
- OMIM: https://mirror.omim.org/entry/191044
- OMIM: https://mirror.omim.org/entry/611880