MYBPC3

MYBPC3
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1GXE, 2AVG, 2K1M, 2MQ0, 2MQ3, 2V6H, 3CX2, 1PD6
Dynodwyr
Cyfenwau	MYBPC3, CMD1MM, CMH4, FHC, LVNC10, MYBP-C, Myosin binding protein C, cardiac, cMyBP-C, myosin binding protein C3
Dynodwyr allanol	OMIM: 600958 HomoloGene: 215 GeneCards: MYBPC3
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • myosin binding • titin binding • metal ion binding • myosin heavy chain binding • GO:0001948, GO:0016582 protein binding • identical protein binding • actin binding • ATPase activator activity • structural constituent of muscle • actin filament binding • muscle alpha-actinin binding • structural molecule activity conferring elasticity Cydrannau o'r gell • cytosol • C zone • sarcomere • striated muscle myosin thick filament • myosin filament • A band • Z disc • M band • cardiac myofibril • striated muscle thin filament Prosesau biolegol • regulation of muscle filament sliding • positive regulation of ATP-dependent activity • cardiac muscle contraction • heart morphogenesis • ventricular cardiac muscle tissue morphogenesis • regulation of striated muscle contraction • cell adhesion • muscle filament sliding • striated muscle contraction • actin filament organization • sarcomere organization • striated muscle myosin thick filament assembly • muscle contraction • skeletal muscle thin filament assembly • skeletal muscle myosin thick filament assembly • cardiac myofibril assembly • cardiac muscle tissue morphogenesis Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4607	n/a
Ensembl	ENSG00000134571	n/a
UniProt	Q14896	n/a
RefSeq (mRNA)	NM_000256	n/a
RefSeq (protein)	NP_000247 NP_000247.2	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 MYBPC3 yw MYBPC3 a elwir hefyd yn MYBPC3 protein a Myosin binding protein C, cardiac (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 11, band 11p11.2.

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 MYBPC3.

• FHC
• CMH4
• CMD1MM
• LVNC10
• MYBP-C

Llyfryddiaeth

• "MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. ". PLoS One. 2017. PMID 28658286.
• "A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain. ". Rev Esp Cardiol (Engl Ed). 2017. PMID 28029522.
• "Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes. ". J Mol Cell Cardiol. 2016. PMID 27620334.
• "Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran. ". Clin Lab. 2016. PMID 27348999.
• "MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults.". J Electrocardiol. 2016. PMID 27061026.