产品概述
产品性能
免疫原
产品应用
研究背景
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008],disease:Defects in MYBPC3 are the cause of cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]. 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.,function:Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.,PTM:Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction.,similarity:Belongs to the immunoglobulin superfamily. MyBP family.,similarity:Contains 3 fibronectin type-III domains.,similarity:Contains 7 Ig-like C2-type (immunoglobulin-like) domains.,
研究领域
Hypertrophic cardiomyopathy (HCM);Dilated cardiomyopathy;
