MYH7

MYH7
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3DTP, 4DB1, 4P7H, 4XA1, 4XA3, 4XA4, 4XA6, 4PA0, 5CHX, 5CJ0, 5CJ4, 5CJ1, 2FXO, 2FXM
Dynodwyr
Cyfenwau	MYH7, CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM, myosin, heavy chain 7, cardiac muscle, beta, myosin heavy chain 7
Dynodwyr allanol	OMIM: 160760 HomoloGene: 68044 GeneCards: MYH7
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • calmodulin binding • GO:0001948, GO:0016582 protein binding • actin binding • cytoskeletal motor activity • ATP binding • ATPase activity • microfilament motor activity • actin filament binding • microtubule motor activity • microtubule binding Cydrannau o'r gell • cytoplasm • stress fiber • Z disc • myosin filament • myosin complex • muscle myosin complex • Myoffibril • sarcomere Prosesau biolegol • cardiac muscle contraction • adult heart development • transition between fast and slow fiber • regulation of the force of heart contraction • skeletal muscle contraction • regulation of slow-twitch skeletal muscle fiber contraction • regulation of heart rate • ventricular cardiac muscle tissue morphogenesis • ATP metabolic process • muscle filament sliding • striated muscle contraction • regulation of the force of skeletal muscle contraction • muscle contraction • cardiac muscle hypertrophy in response to stress • microtubule-based movement Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4625	n/a
Ensembl	ENSG00000092054	n/a
UniProt	P12883	n/a
RefSeq (mRNA)	NM_000257	n/a
RefSeq (protein)	NP_000248	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 MYH7 yw MYH7 a elwir hefyd yn Myosin heavy chain 7 (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 MYH7.

• CMH1
• MPD1
• SPMD
• SPMM
• CMD1S
• MYHCB

Llyfryddiaeth

• "[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID 28777849.
• "Early-Onset Hypertrophic Cardiomyopathy Mutations Significantly Increase the Velocity, Force, and Actin-Activated ATPase Activity of Human β-Cardiac Myosin. ". Cell Rep. 2016. PMID 27974200.
• "A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy. ". Minerva Cardioangiol. 2017. PMID 27910300.
• "Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. ". BMC Med Genet. 2016. PMID 27519903.
• "Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.". Proc Natl Acad Sci U S A. 2016. PMID 27247418.