TSFM

2CP9

TSFM
TSFM
Strwythurau
PDBHuman UniProt search: PDBe RCSB
Dynodwyr
CyfenwauTSFM, EFTS, EFTSMT, Ts translation elongation factor, mitochondrial
Dynodwyr allanolOMIM: 604723 HomoloGene: 4184 GeneCards: TSFM
Patrwm RNA pattern




Rhagor o gyfeiriadau
Orthologau
SpeciesBod dynolLlygoden
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005726
NM_001172695
NM_001172696
NM_001172697

n/a

RefSeq (protein)

NP_001166166
NP_001166167
NP_001166168
NP_005717

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 TSFM yw TSFM a elwir hefyd yn Ts translation elongation factor, mitochondrial (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 12, band 12q14.1.[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 TSFM.

  • EFTS
  • EFTSMT

Llyfryddiaeth

  • "Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. ". Eur J Hum Genet. 2016. PMID 27677415.
  • "Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. ". Am J Hum Genet. 2006. PMID 17033963.
  • "Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. ". Neurology. 2014. PMID 25037205.
  • "Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. ". J Hepatol. 2012. PMID 21741925.
  • "Assignment of the mitochondrial translation elongation factor Ts gene (TSFM) to human chromosome 12 bands q13-->q14 by in situ hybridization and with somatic cell hybrids.". Cytogenet Cell Genet. 2000. PMID 10965106.

Cyfeiriadau

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

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