QuickView for TNNI3 (gene)

Gene Symbol:

TNNI3 Homo sapiens

Full name:

troponin I3, cardiac type

Synonyms:

CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI, troponin I, cardiac muscle, cardiomyopathy, dilated 2A (autosomal recessive), troponin I type 3 (cardiac)

Genomic Location:

Chr 19: 60354947-60360912

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-sk...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTAWWWATA_RSRFC4_Q2 ,  TGACCTY_ERR1_Q2 ,  GGGAGGRR_MAZ_Q6

Cytogenetic Map:

19q13.42

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