Gene: MYH7
Alternate names for this Gene: CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM
Gene Summary: Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy.
Gene is located in Chromosome: 14
Location in Chromosome : 14q11.2
Description of this Gene: myosin heavy chain 7
Type of Gene: protein-coding
Gene: MHRT
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: MIR208B
Alternate names for this Gene: MIRN208B|mir-208b
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 14
Location in Chromosome : 14q11.2
Description of this Gene: microRNA 208b
Type of Gene: ncRNA
rs397516208 in
MYH7;MHRT;MIR208B gene and
CARDIOMYOPATHY, DILATED, 1S
PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
PMID 21127202 2011 Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
PMID 12379228 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.
rs730880800 in
MYH7;MHRT;MIR208B gene and
Cardiomyopathy, Hypertrophic, Familial
PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.
PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.