3e77
From Proteopedia
Contents |
Human phosphoserine aminotransferase in complex with PLP
Disease
[SERC_HUMAN] Defects in PSAT1 are the cause of phosphoserine aminotransferase deficiency (PSATD) [MIM:610992]. PSATD is characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.[1]
Function
[SERC_HUMAN] Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine (By similarity).
About this Structure
3e77 is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See Also
Reference
- ↑ Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet. 2007 May;80(5):931-7. Epub 2007 Mar 30. PMID:17436247 doi:S0002-9297(07)60948-3
Categories: Homo sapiens | Phosphoserine transaminase | Andersson, J. | Arrowsmith, C H. | Berg, S Van Den. | Berglund, H. | Bountra, C. | Collins, R. | Dahlgren, L G. | Edwards, A M. | Flodin, S. | Flores, A. | Graslund, S. | Hammarstrom, M. | Johansson, A. | Johansson, I. | Karlberg, T. | Kotenyova, T. | Lehtio, L. | Moche, M. | Nilsson, M E. | Nordlund, P. | Nyman, T. | Olesen, K. | Persson, C. | SGC, Structural Genomics Consortium. | Sagemark, J. | Schueler, H. | Thorsell, S G. | Tresaugues, L. | Weigelt, J. | Welin, M. | Wikstrom, M. | Wisniewska, M. | Amino-acid biosynthesis | Aminotransferase | Disease mutation | Phosphoserine aminotransferase | Plp | Pyridoxal phosphate | Serc | Serine biosynthesis | Sgc | Structural genomic | Structural genomics consortium | Transferase
