功能： 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.,
功能： 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.,
在线咨询
湘公网安备