An in-frame 3-bp deletion mutation in MYH6, in which one residue in MHC-α is removed, enhances the binding of MHC-α to myosin binding protein-C and disrupts normal sarcomere function and cardiac atrial conduction velocity.

2024年12月25日 · MYH6 (Myosin Heavy Chain 6) is a Protein Coding gene. Diseases associated with MYH6 include Atrial Septal Defect 3 and Cardiomyopathy, Dilated, 1Ee. Among its related pathways are Cytoskeleton remodeling Regulation of …

The MYH6 gene provides instructions for making a protein known as the cardiac alpha (α)-myosin heavy chain. This protein is found in heart (cardiac) muscle cells, where it forms part of a larger protein called type II myosin.

Background: MYH6 variants are the most well-known genetic risk factor (10%) for hypoplastic left heart syndrome (HLHS) and are associated with decreased cardiac transplant-free survival. MYH6 encodes for α-myosin heavy chain (α-MHC), a …

The mutations in MYH6 cause when a genetic cause can be identified, which has estimated to occur in 65% of hypertrophic cardiomyopathy. Our data provide evidence for a novel form of calcium-independent positive inotropy in failing cardiac myocytes by fast alpha-myosin motor protein gene transfer.

2025年1月4日 · Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. Posch MG, et al. PLoS One, 2011. PMID 22194935, Free PMC Article. What's a GeneRIF? MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer.

The MYH6 gene encodes the alpha heavy chain subunit of cardiac myosin (alpha-MHC), a fast ATPase primarily expressed in atrial tissue. Kurabayashi et al. (1988) constructed and characterized 2 types of myosin heavy chain cDNA clones from a fetal human heart cDNA library.