Troponin I, Cardiac

Alternative Names

  • TNNI3
  • Troponin I, Cardiac Muscle Isoform
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OMIM Number

191044

NCBI Gene ID

7137

Uniprot ID

P19429

Length

6,007 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Troponin I, cardiac muscle

Molecular Mass

24008 Da

Amino Acid Count

210

Genomic Location

chr19:55,151,767-55,157,773

Gene Map Locus
19q13.42

Description

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). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000363.5:c.61C>TLebanonchr19:55157097PathogenicPathogenicCardiomyopathy, Familial Hypertrophic 7NG_032759.1:g.14626C>T; NM_000363.5:c.61C>T; NP_000354.4:p.Arg21Cys26760712812434
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