MYH6

MYH6

A gene on chromosome 14q12 that encodes a heavy chain of myosin and is thus involved in cytokinesis, cell shape and specialised functions—e.g., secretion and capping.
 
Molecular pathology
MYH6 mutation causes familial hypertrophic cardiomyopathy and atrial septal defect 3.
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References in periodicals archive ?
The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
Source:RefSeq mRNA;Acc:NM_213740] ENSSSCG00000030 999 MYH6 myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576] ENSSSCG00000002 029 MYH7 Sus scrofa myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.
miR-208a and miR-208b are encoded by introns in the MYH6 (myosin, heavy chain 6, cardiac muscle, alpha) and MYH7 genes, respectively.
2] Genes: MYH7, myosin, heavy chain 7, cardiac muscle, beta; MYH6, myosin, heavy chain 6, cardiac muscle, alpha; Myh7, myosin, heavy polypeptide 7, cardiac muscle, beta [Mus musculus].
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
The study reports a genetic variant in the gene MYH6 that is associated with high risk of sick sinus syndrome (SSS) in Icelanders.
The whole-genome sequencing data yielded a strong association between SSS and a rare missense mutation in MYH6 that could not be accounted for by any other sequence variation.