TSFM gene

Ts translation elongation factor, mitochondrial

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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.[provided by RefSeq, Mar 2010]

From UniProt:

Associates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF-Tu.GTP complex up to the GTP hydrolysis stage on the ribosome.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Combined oxidative phosphorylation deficiency 3

From UniProt:

Combined oxidative phosphorylation deficiency 3 (COXPD3): A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes. [MIM:610505]

Cytogenetic Location: 12q14.1, which is the long (q) arm of chromosome 12 at position 14.1

Molecular Location: base pairs 57,782,745 to 57,802,856 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q14.1, which is the long (q) arm of chromosome 12 at position 14.1
  • EFTS
  • EFTSMT