MYPN Antibody

1. Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. PMID: 28427417
2. Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. PMID: 28220527
3. results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present PMID: 28017374
4. Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus. PMID: 25541130
5. the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy PMID: 22892539
6. Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy. PMID: 22286171
7. mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies PMID: 20801532
8. myopalladin plays a signaling role in targeting and orienting nebulin during sarcomere assembly PMID: 12482578
9. myopalladin gene is a new gene associated with dilated cardiomyopathy and observed mutations in 3-4% of cases in a population. of European descent. PMID: 18006477

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HGNC: 23246

OMIM: 608517

KEGG: hsa:84665

STRING: 9606.ENSP00000351790

UniGene: Hs.55205