Sheep Myosin Heavy Chain 6, Cardiac Muscle, Alpha ELISA Kit | MYH6 elisa kit
Sheep Myosin Heavy Chain 6, Cardiac Muscle, Alpha ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 ~4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Mar 2010]
Uniprot Description
MYH6: Muscle contraction. Defects in MYH6 are the cause of atrial septal defect type 3 (ASD3). ASD3 is a congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Defects in MYH6 are the cause of familial hypertrophic cardiomyopathy type 14 (CMH14). It 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 MYH6 are the cause of cardiomyopathy dilated type 1EE (CMD1EE). It 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 MYH6 are the cause of susceptibility to sick sinus syndrome type 3 (SSS3). The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. MYH6 variations are associated with susceptibility to sick sinus syndrome (PubMed:21378987). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (PubMed:21378987).
Protein type: Motor; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 14q12
Cellular Component: nucleoplasm; sarcomere; focal adhesion; myofibril; cytoplasm; stress fiber; muscle myosin complex; Z disc; myosin complex; cytosol
Molecular Function: microfilament motor activity; calmodulin binding; ATPase activity; actin-dependent ATPase activity; actin binding; protein kinase binding; ATP binding
Biological Process: adult heart development; striated muscle contraction; regulation of heart rate; metabolic process; in utero embryonic development; atrial cardiac muscle morphogenesis; Wnt receptor signaling pathway through beta-catenin; sarcomere organization; regulation of heart contraction; muscle filament sliding; visceral muscle development; BMP signaling pathway; regulation of ATPase activity; myofibril assembly; muscle contraction; cardiac muscle fiber development; regulation of blood pressure; ventricular cardiac muscle morphogenesis; regulation of the force of heart contraction
Disease: Cardiomyopathy, Familial Hypertrophic, 14; Sick Sinus Syndrome 3, Susceptibility To; Cardiomyopathy, Dilated, 1ee; Atrial Septal Defect 3; Cardiomyopathy, Familial Hypertrophic, 1
Research Articles on MYH6
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Product Notes
The Sheep MYH6 myh6 (Catalog #AAA049371) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA049371 ELISA Kit recognizes Sheep MYH6. It is sometimes possible for the material contained within the vial of "Myosin Heavy Chain 6, Cardiac Muscle, Alpha, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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