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-Structure paper
Title | Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. |
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Journal, issue, pages | Mol. Genet. Metab., Vol. 113, Page 161-170, Year 2014 |
Publish date | Feb 4, 2014 (structure data deposition date) |
Authors | 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. ...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 links | Mol. Genet. Metab. / PubMed:24863970 |
Methods | X-ray diffraction |
Resolution | 2 Å |
Structure data | PDB-4ox2: |
Chemicals | ChemComp-MN: ChemComp-GTP: ChemComp-SPV: ChemComp-NA: ChemComp-1PE: ChemComp-ETX: ChemComp-HOH: |
Source |
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Keywords | LYASE / kinase / gluconeogenesis |