2cp9

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Template:STRUCTURE 2cp9

Contents 1 Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts 2 Disease 3 Function 4 About this Structure 5 See Also 6 Reference

Solution structure of RSGI RUH-042, a UBA domain from human mitochondrial elongation factor Ts

Disease

[EFTS_HUMAN] Defects in TSFM are the cause of combined oxidative phosphorylation deficiency type 3 (COXPD3) [MIM:610505]. Defects in the mitochondrial oxidative phosphorylation system result in devastating, mainly multisystem, diseases. COXPD3 symptoms include 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.^[1]

Function

[EFTS_HUMAN] 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 (By similarity).[HAMAP-Rule:MF_03135]

About this Structure

2cp9 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

See Also

• Elongation factor

Reference

1. ↑ Smeitink JA, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, Sasarman F, Vriend G, Jacob-Hirsch J, Shaag A, Rechavi G, Welling B, Horst J, Rodenburg RJ, van den Heuvel B, Shoubridge EA. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov;79(5):869-77. Epub 2006 Sep 15. PMID:17033963 doi:S0002-9297(07)60830-1