2g76
From Proteopedia
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{{STRUCTURE_2g76| PDB=2g76 | SCENE= }} | {{STRUCTURE_2g76| PDB=2g76 | SCENE= }} | ||
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===Crystal structure of human 3-phosphoglycerate dehydrogenase=== | ===Crystal structure of human 3-phosphoglycerate dehydrogenase=== | ||
+ | ==Disease== | ||
+ | [[http://www.uniprot.org/uniprot/SERA_HUMAN SERA_HUMAN]] Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:[http://omim.org/entry/601815 601815]]. It is characterized by congenital microcephaly, psychomotor retardation, and seizures. | ||
==About this Structure== | ==About this Structure== |
Revision as of 09:29, 24 March 2013
Contents |
Crystal structure of human 3-phosphoglycerate dehydrogenase
Disease
[SERA_HUMAN] Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]. It is characterized by congenital microcephaly, psychomotor retardation, and seizures.
About this Structure
2g76 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Categories: Homo sapiens | Phosphoglycerate dehydrogenase | Arrowsmith, C. | Delft, F von. | Edwards, A. | Gileadi, O. | Oppermann, U. | SGC, Structural Genomics Consortium. | Salah, E. | Savitsky, P. | Sundstrom, M. | Turnbull, A P. | Weigelt, J. | 2-hydroxyacid dehydrogenase | Oxidoreductase | Phosphoglycerate dehydrogenase deficiency | Serine metabolism | Sgc | Structural genomic | Structural genomics consortium