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 …

MYH6，即肌球蛋白重链6，别名α-MHC、MyHC-alpha等。它是一种在心脏肌肉中表达的肌球蛋白，属于MYB/MYH基因家族的一员。MYH6在肌肉收缩过程中发挥重要作用，是肌肉纤维收缩的关键分子。其作用机制涉及到心脏肌肉细胞的收缩功能，与心脏的泵血能力密切相关。

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.

Our study for the first time identifies variants in the promoter region of the MYH6 gene in Chinese patients with isolated and sporadic ventricular septal defect. These variants significantly reduced MYH6 gene expression and affected transcription factor binding sites …

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.

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6). Showing features for binding site. Gene Ontology (GO) annotations organized by slimming set. Note: Thick filaments of the myofibrils. Showing features for natural variant. We now provide the "Disease & Variants" viewer in its own tab.

Cardiac muscle Myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac Myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac Myosin.

2015年2月25日 · Recent genome-wide association studies have demonstrated an association between MYH6, the gene encoding α-myosin heavy chain (α-MHC), and sinus node function in the general population. Moreover, a rare MYH6 variant, R721W, predisposing susceptibility to sick sinus syndrome has been identified.

Enables microfilament motor activity. Involved in cardiac muscle contraction. Acts upstream of or within several processes, including adult heart development; muscle cell development; and regulation of heart contraction. Located in Z disc and stress fiber. Part of Myosin complex.