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MGP003165

Record overview

MGPD IDMGP003165
Gene ID7137
SpeciesHomo sapiens (Human)
Gene Nametroponin I type 3 (cardiac)
Gene Symbol TNNI3
SynonymsCMH7; RCM1; cTnI; CMD2A; TNNC1; CMD1FF;
Alternate namestroponin I, cardiac muscle; cardiomyopathy, dilated 2A (autosomal recessive);
Chromosome19
Map Location19q13.4
SummaryTroponin 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]
OrthologsView orthologs and multiple alignments for TNNI3

Proteins

troponin I, cardiac muscle
Refseq ID:NP_000354
Protein GI:151101270
UniProt ID:P19429
mRNA ID:NM_000363
Length:210
RefSeq Status:
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQL
HARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSG
MEGRKKKFES
 
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