Product Overview
Description
CLPP-00150362 is recombinant human TNNI3 protein
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMGSMADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIA
KQELEREAEERRGEKGRALSTRCQPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRG
KFKRPTLRRVRISADAMMQALLGARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES
Sequence Similarities
Belongs to the troponin I family.
Predicted Molecular Weight
26 kDa including tags
Target Information
Alternative Names
Cardiac muscle; Cardiac troponin I; cardiomyopathy, dilated 2A (autosomal recessive); Cardiomyopathy, familial hypertrophic, 7, included; CMD1FF; CMD2A; CMH7; cTnI; Familial hypertrophic cardiomyopathy 7; MGC116817; RCM1; Tn1; Tni; TNN I3; TNNC 1; TNNC1; TNNI3; TNNI3_HUMAN; Troponin I; Troponin I cardiac; Troponin I cardiac muscle; Troponin I cardiac muscle isoform; Troponin I type 3 cardiac; troponin I, cardiac 3; TroponinI; Ttroponin I type 3 (cardiac)
Protein Function
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
Involvement in Disease
Defects in TNNI3 are the cause of cardiomyopathy familial hypertrophic type 7 (CMH7). Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.Defects in TNNI3 are the cause of cardiomyopathy familial restrictive type 1 (RCM1). RCM1 is an heart muscle disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.Defects in TNNI3 are the cause of cardiomyopathy dilated type 2A (CMD2A). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.Defects in TNNI3 are the cause of cardiomyopathy dilated type 1FF (CMD1FF). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Shipping & Handling
Constituents
30% Glycerol (glycerin, glycerine), 0.24% Tris HCl, 0.5% Sodium chloride, 0.002% PMSF, 0.015% (R*,R*)-1,4-Dimercaptobutan-2,3-diol, 69.243% Water.
Shipping
Shipped on Dry Ice.
Storage
Store at -20 °C or -80 °C.
