MYL4 Antibody

1. The authors describe in a population approach a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia. PMID: 27742809
2. a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4, caused atrial fibrillation. PMID: 27066836
3. A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation. PMID: 25807286
4. results demonstrate that the expression of hALC-1 could have a beneficial effect on the overloaded hypertrophied heart PMID: 16106982
5. The (Ala-Pro) rich part of this protein acts as a "spacer arm" responsible for correct positioning of the N-terminal actin binding site. PMID: 9000508
6. The N-terminus of this protein is an actin binding site. PMID: 9738905
7. NMR showed involvement of N-terminus and lysines 3 and 4 in interaction with actin. Mutations of these lysines (K3A,K4R,K4A,K4D) resulted in altered actin binding and actin activated MgATPase. Mutation of Ala-1 to val had no effect on binding or kinetics. PMID: 10373429

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HGNC: 7585

OMIM: 160770

KEGG: hsa:4635

STRING: 9606.ENSP00000347055

UniGene: Hs.463300