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 discdkac;
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
	4624
	n/a
	ENSG00000197616
	n/a
	P13533
	n/a
	NM_002471
	n/a
	NP_002462
	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.^[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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] MYH6 - Cronfa NCBI

[1]

[2]