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TSFM encodes a mitochondrial translation elongation factor. Additionally we are shipping Ts Translation Elongation Factor, Mitochondrial Proteins (12) and many more products for this protein.
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Different TSFM mutations can produce the same or very different clinical phenotypes, going from abortions to moderately severe presentations. On the other hand, the same TSFM mutation can also produce same or different phenotypes within the same range of presentations, therefore suggesting the involvement of unknown factors.
show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease
Loss of activity is caused by a significant reduction in the ability of EF-Ts(mt) R325W to bind EF-Tu (show Tufm Antibodies)(mt), leading to a defect in nucleotide exchange.
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.
, elongation factor Ts, mitochondrial
, hypothetical protein
, mitochondrial elongation factor Ts
, translation elongation factor