MYOT

2KDG, 2KKQ

MYOT
MYOT
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauMYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD, myotilin
Dynodwyr allanolOMIM: 604103 HomoloGene: 4942 GeneCards: MYOT
Patrwm RNA pattern
Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez

9499

n/a

Ensembl

ENSG00000120729

n/a

UniProt

Q9UBF9

n/a

RefSeq (mRNA)

NM_006790
NM_001135940
NM_001300911

n/a

RefSeq (protein)

NP_001129412
NP_001287840
NP_006781

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 MYOT yw MYOT a elwir hefyd yn Myotilin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 5, band 5q31.2.[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 MYOT.

  • MFM3
  • TTID
  • TTOD
  • LGMD1
  • LGMD1A

Llyfryddiaeth

  • "Solution structure of the first immunoglobulin domain of human myotilin. ". J Biomol NMR. 2009. PMID 19418025.
  • "Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?". J Neurol Sci. 2009. PMID 19027924.
  • "Novel recessive myotilin mutation causes severe myofibrillar myopathy. ". Neurogenetics. 2014. PMID 24928145.
  • "Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. ". Biochem J. 2011. PMID 21361873.
  • "Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.". J Neuropathol Exp Neurol. 2009. PMID 19458539.

Cyfeiriadau

  1. ↑ "Human PubMed Reference:".
  2. ↑ MYOT - Cronfa NCBI

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