MYH7


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MYH7

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.
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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.
HCM MASTR allows amplification and sequencing of the following genes: MYH7, MYBPC3, TNNT2, TNNI3 and MYL2.
The Stanford team compared cells from family members of a newly diagnosed 53-year-old woman with a mutation in the MYH7 gene, which partially encodes for a protein in the heart called beta myosin.
Two of the patients were familial HCM patients who were carriers of missense mutations in the MYH7 [2] (myosin, heavy chain 7, cardiac muscle, beta) gene (Val822Met and Arg453Cys).
We isolated total RNA with TRIzol (Invitrogen) and used the TaqMan MicroRNAReverse Transcription Kit, Megaplex RT Human Pool A primers, and TaqMan human MicroRNA TLDA plate A (all from Applied Biosystems) to determine the production profile of 377 human miRNAs in the healthy LV tissues and in a pool of the 2 tissues with MYH7 mutations.
Compared with the healthy tissue, miR-495 was underproduced in the 2 samples with MYH7 mutations and overproduced in the 3 samples without sarcomeric mutations.
The FAMILION DCM Test sequences 12 genes (LMNA, ANKRD1, TNNC1, SCN5A, TPM1, MYBPC3, ACT1, LDB3, PLN, MYH7, TNNT2, TNNI3) and is performed in a CLIA-certified commercial laboratory that meets all applicable state and federal guidelines.
In brief, reference sequences for the genes MYH7 [4] (myosin, heavy chain 7, cardiac muscle, beta), MYBPC3 (myosin binding protein C, cardiac), and TNNT2 [troponin T type 2 (cardiac)] were downloaded from the NCBI GenBank in FASTA format to generate a so-called "sequence file.
We covered the 3 genes MYH7, MYBPC3, and TNNT2 with 9 PCR products (subsequently referred to as "amplicons") that were generated in 7 individual and 1 duplex reaction (see Table 1 in the Data Supplement that accompanies the online version of this article at http://www.
Overall, MYH7 would be mutated in 10-30% of families, whereas the genes encoding cardiac troponin T (TNNT2) on chromosome 1q3, [beta]tropomyosin (TPMA) on chromosome 15q2, and myosin-binding protein C (MYBPC) on chromosome 11p11.
MYH7 is a large gene, expanding for ~25 kb of the genome, and contains 40 exons.