基因名:
TNNI3
产品别名:
CMD1FF; CMD2A; CMH7; RCM1; TNNC1; cTnI; TNNI3; troponin I3, cardiac type; troponin I3, cardiac type; troponin I, cardiac muscle; cardiomyopathy, dilated 2A (autosomal recessive); troponin I type 3 (cardiac); cTnI-C复合物蛋白蛋白; 心肌肌钙蛋白; 心肌肌钙蛋白I; 心肌肌钙蛋白I(cTnI); 心肌肌钙蛋白I(cTnI)真核蛋白; 磷酸化心肌肌钙蛋白; 磷酸化钙调节蛋白-1;
背景信息:
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]