MYH11

MYH11
Dynodwyr
Cyfenwau	MYH11, AAT4, FAA4, SMHC, SMMHC, myosin, heavy chain 11, smooth muscle, myosin heavy chain 11, VSCM2, SMMS-1
Dynodwyr allanol	OMIM: 160745 HomoloGene: 128512 GeneCards: MYH11
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • GO:0001948, GO:0016582 protein binding • ATP binding • actin binding • cytoskeletal motor activity • structural constituent of muscle • actin filament binding • calmodulin binding • microtubule motor activity • microtubule binding Cydrannau o'r gell • myosin filament • myosin complex • melanosome • muscle myosin complex • cytosol • extracellular exosome Prosesau biolegol • skeletal muscle myosin thick filament assembly • smooth muscle contraction • elastic fiber assembly • muscle contraction • microtubule-based movement Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4629	n/a
Ensembl	ENSG00000133392 ENSG00000276480	n/a
UniProt	P35749	n/a
RefSeq (mRNA)	NM_001040113 NM_001040114 NM_002474 NM_022844	n/a
RefSeq (protein)	NP_001035202 NP_001035203 NP_002465 NP_074035 NP_002465.1 NP_074035.1	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 MYH11 yw MYH11 a elwir hefyd yn Myosin, heavy polypeptide 11, smooth muscle, isoform CRA_b (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 16, band 16p13.11.

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 MYH11.

• AAT4
• FAA4
• SMHC
• SMMHC

Llyfryddiaeth

• "A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees. ". Int J Cardiol. 2015. PMID 26056961.
• "Successful long-term management of iris flocculi and miosis in a patient with a strong family history of thoracic aortic aneurysms and dissections associated with an MYH11 mutation. ". JAMA Ophthalmol. 2014. PMID 24921172.
• "Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells. ". J Biol Chem. 2014. PMID 24711452.
• "Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. ". Eur J Hum Genet. 2013. PMID 22968129.
• "Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.". PLoS Genet. 2011. PMID 21698135.