Recombinant Human Myosin-6 (MYH6), partial

1. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). PMID:29505555
2. We developed an human cardiac alpha-myosin -induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes. PMID:28431892
3. The etiology of MYH6-associated HLHS can be informed using iPSCs. PMID:27789736
4. Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes. PMID:28991257
5. the P830L and A1004S alphaMHC mutations alter myocyte contractility in completely different ways while at the same preserving peak intracellular calcium PMID:28088328
6. Data show that compound heterozygosity for recessive myosin heavy chain 6 (MYH6) mutations in patients with hypoplastic left heart and reduced systemic right ventricular ejection fraction. PMID:26085007
7. human alpha- and beta-cardiac myosin, as well as the mutants, show opposite mechanical and enzymatic phenotypes with respect to each other. PMID:25937279
8. The novel MYH6 mutation delE933 causes both structural damage of the sarcomere and functional impairments on atrial action propagation. PMID:25717017
9. Data from molecular dynamic/docking simulations suggest that actin-myosin binding free energy accepts contributions from both electrostatic and nonpolar forces; studies compare cardiac alpha-myosin, beta-myosin, and fast skeletal muscle myosin. PMID:24224850
10. R1165C mutation in MYH9 gene is associated with macroscopic hematuria and presenile cataract. PMID:22627578
11. Perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial Secundum-type atrial septal defects. PMID:22194935
12. the alpha-isoform of myosin heavy chain is the pathogenic autoantigen for CD4+ T cells in myocarditis PMID:21436590
13. the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant PMID:21378987
14. data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to atrial septal defect and provide a novel potential mechanism PMID:20656787
15. The mutations in MYH6 cause when a genetic cause can be identified, which has estimated to occur in 65% of hypertrophic cardiomyopathy. PMID:20215591
16. 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. PMID:19801488
17. results show that PUR proteins are capable of binding to alpha-MHC mRNA and attenuate its translational efficiency; also show robust expression of PUR proteins in failing hearts where alpha-MHC mRNA levels are suppressed PMID:12933792
18. Mutation in myosin heavy chain 6 causes atrial septal defect PMID:15735645
19. Three heterozygous MYH6 missense mutations were identified in dilated cardiomyopathy probands (P830L, A1004S, and E1457K; 4.3% of probands). A Q1065H mutation was detected in 1 of 21 hypertrophic cardiomyopathy probands. PMID:15998695
20. the large step of dimeric myosin VI is primarily made possible by a medial tail in each monomer that forms a rare single alpha-helix of approximately 10 nm, which is anchored to the calmodulin-bound IQ domain by a globular proximal tail. PMID:18511944

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HGNC: 7576

UNIGENE: Hs.278432

KEGG: hsa:4624

STRING: 9606.ENSP00000348634

OMIM: 160710