MYH6

MYH6
Dynodwyr
Cyfenwau	MYH6, ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC, myosin, heavy chain 6, cardiac muscle, alpha, myosin heavy chain 6
Dynodwyr allanol	OMIM: 160710 HomoloGene: 124414 GeneCards: MYH6
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • calmodulin binding • ATPase activity • actin binding • cytoskeletal motor activity • ATP binding • protein kinase binding • myosin phosphatase activity • actin filament binding • microfilament motor activity • microtubule motor activity • microtubule binding Cydrannau o'r gell • cytoplasm • cytosol • sarcomere • Myoffibril • myosin filament • muscle myosin complex • myosin complex • stress fiber • Z disc Prosesau biolegol • muscle contraction • ventricular cardiac muscle tissue morphogenesis • ATP metabolic process • muscle filament sliding • atrial cardiac muscle tissue morphogenesis • GO:0016576 protein dephosphorylation • in utero embryonic development • regulation of the force of heart contraction • regulation of heart rate • striated muscle contraction • adult heart development • visceral muscle development • regulation of heart contraction • regulation of blood pressure • cardiac muscle hypertrophy in response to stress • actin filament-based movement • myofibril assembly • BMP signaling pathway • regulation of ATP-dependent activity • sarcomere organization • cardiac muscle contraction • canonical Wnt signaling pathway • regulation of heart growth • microtubule-based movement Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4624	n/a
Ensembl	ENSG00000197616	n/a
UniProt	P13533	n/a
RefSeq (mRNA)	NM_002471	n/a
RefSeq (protein)	NP_002462	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn MYH6 yw MYH6 a elwir hefyd yn Myosin heavy chain 6 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 14, band 14q11.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn MYH6.

• ASD3
• MYHC
• SSS3
• CMH14
• MYHCA
• CMD1EE
• alpha-MHC

Llyfryddiaeth

• "Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy. ". Arch Biochem Biophys. 2017. PMID 28088328.
• "Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. ". Circ Cardiovasc Genet. 2015. PMID 26085007.
• "MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation. ". J Pediatr Hematol Oncol. 2012. PMID 22627578.
• "Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. ". PLoS One. 2011. PMID 22194935.
• "A rare variant in MYH6 is associated with high risk of sick sinus syndrome.". Nat Genet. 2011. PMID 21378987.