MYBPC3

MYBPC3
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauMYBPC3, CMD1MM, CMH4, FHC, LVNC10, MYBP-C, Myosin binding protein C, cardiac, cMyBP-C, myosin binding protein C3
Dynodwyr allanolOMIM: 600958 HomoloGene: 215 GeneCards: MYBPC3
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000256

n/a

RefSeq (protein)

NP_000247
NP_000247.2

n/a

Lleoliad (UCSC)n/an/a
PubMed search[1]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.[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.

Cyfeiriadau

  1. "Human PubMed Reference:".
  2. MYBPC3 - Cronfa NCBI

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