Synthetic peptide directed towards the C terminal region of human TSFM
Biochem/physiol Actions
Ts translation elongation factor, mitochondrial (TSFM) is a guanine nucleotide exchange factor for EFTu during the elongation step of protein translation in mitochondria. Mutations in TSFM gene results in combined oxidative phosphorylation deficiency-3 syndrome.
Sequence
Synthetic peptide located within the following region: VVGMAPLSVGSLDDEPGGEAETKMLSQPYLLDPSITLGQYVQPQGVSVVD
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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American journal of human genetics, 79(5), 869-877 (2006-10-13)
The 13 polypeptides encoded in mitochondrial DNA (mtDNA) are synthesized in the mitochondrial matrix on a dedicated protein-translation apparatus that resembles that found in prokaryotes. Here, we have investigated the genetic basis for a mitochondrial protein-synthesis defect associated with a
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.
J L Vernon et al.
Cytogenetics and cell genetics, 89(3-4), 145-146 (2000-08-31)
European journal of human genetics : EJHG, 25(1), 153-156 (2016-09-30)
Oxidative phosphorylation dysfunction has been found in many different disorders. This biochemical pathway depends on mitochondrial protein synthesis. Thus, mutations in components of the mitochondrial translation system can be responsible for some of these pathologies. We identified a new homozygous
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