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TitleThree rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Journal, issue, pagesMol. Genet. Metab., Vol. 113, Page 161-170, Year 2014
Publish dateFeb 4, 2014 (structure data deposition date)
AuthorsAdams, D.R. / Yuan, H. / Holyoak, T. / Arajs, K.H. / Hakimi, P. / Markello, T.C. / Wolfe, L.A. / Vilboux, T. / Burton, B.K. / Fajardo, K.F. ...Adams, D.R. / Yuan, H. / Holyoak, T. / Arajs, K.H. / Hakimi, P. / Markello, T.C. / Wolfe, L.A. / Vilboux, T. / Burton, B.K. / Fajardo, K.F. / Grahame, G. / Holloman, C. / Sincan, M. / Smith, A.C. / Wells, G.A. / Huang, Y. / Vega, H. / Snyder, J.P. / Golas, G.A. / Tifft, C.J. / Boerkoel, C.F. / Hanson, R.W. / Traynelis, S.F. / Kerr, D.S. / Gahl, W.A.
External linksMol. Genet. Metab. / PubMed:24863970
MethodsX-ray diffraction
Resolution2 Å
Structure data

PDB-4ox2:
I45T cytosolic phosphoenolpyruvate carboxykinase in complex with beta-sulfopyruvate and GTP
Method: X-RAY DIFFRACTION / Resolution: 2 Å

Chemicals

ChemComp-MN:
Unknown entry

ChemComp-GTP:
GUANOSINE-5'-TRIPHOSPHATE / GTP, energy-carrying molecule*YM

ChemComp-SPV:
SULFOPYRUVATE

ChemComp-NA:
Unknown entry

ChemComp-1PE:
PENTAETHYLENE GLYCOL / precipitant*YM

ChemComp-ETX:
2-ETHOXYETHANOL

ChemComp-HOH:
WATER

Source
  • rattus norvegicus (Norway rat)
KeywordsLYASE / kinase / gluconeogenesis

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