PSAT1

Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome{{cite journal | vauthors = Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M | title = Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway | journal = Am. J. Hum. Genet. | volume = 95 | issue = 3 | pages = 285–93 | year = 2014 | pmid = 25152457 | doi = 10.1016/j.ajhg.2014.07.012 | pmc=4157144}} and phosphoserine aminotransferase deficiency.{{cite journal | vauthors = Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E | title = Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway | journal = Am. J. Hum. Genet. | volume = 80 | issue = 5 | pages = 931–7 | year = 2007 | pmid = 17436247 | pmc = 1852735 | doi = 10.1086/517888 }}

• Phosphoserine transaminase

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• {{cite journal |vauthors = Vié N, Copois V, Bascoul-Mollevi C, Denis V, Bec N, Robert B, Fraslon C, Conseiller E, Molina F, Larroque C, Martineau P, Del Rio M, Gongora C | title = Overexpression of phosphoserine aminotransferase PSAT1 stimulates cell growth and increases chemoresistance of colon cancer cells. | journal = Mol. Cancer | volume = 7 | pages = 14 | year = 2008 | pmid = 18221502 | pmc = 2245978 | doi = 10.1186/1476-4598-7-14 | doi-access = free }}
• {{cite journal | vauthors = Basurko MJ, Marche M, Darriet M, Cassaigne A | title = Phosphoserine aminotransferase, the second step-catalyzing enzyme for serine biosynthesis. | journal = IUBMB Life | volume = 48 | issue = 5 | pages = 525–9 | year = 1999 | pmid = 10637769 | doi = 10.1080/713803557 | s2cid = 22449373 | doi-access = free }}
• {{cite journal | vauthors = Baek JY, Jun DY, Taub D, Kim YH | title = Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis. | journal = Biochem. J. | volume = 373 | issue = Pt 1 | pages = 191–200 | year = 2003 | pmid = 12633500 | pmc = 1223456 | doi = 10.1042/BJ20030144 }}
• {{cite journal |vauthors = Ozeki Y, Pickard BS, Kano S, Malloy MP, Zeledon M, Sun DQ, Fujii K, Wakui K, Shirayama Y, Fukushima Y, Kunugi H, Hashimoto K, Muir WJ, Blackwood DH, Sawa A | title = A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expression. | journal = Neurosci. Res. | volume = 69 | issue = 2 | pages = 154–60 | year = 2011 | pmid = 20955740 | pmc = 3049551 | doi = 10.1016/j.neures.2010.10.003 }}
• {{cite journal |vauthors = Misrahi M, Atger M, Milgrom E | title = A novel progesterone-induced messenger RNA in rabbit and human endometria. Cloning and sequence analysis of the complementary DNA. | journal = Biochemistry | volume = 26 | issue = 13 | pages = 3975–82 | year = 1987 | pmid = 3651428 | doi = 10.1021/bi00387a035 }}

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• {{PDBe-KB2|Q9Y617|Phosphoserine aminotransferase}}

{{Nitrogenous transferases}}

{{Enzymes}}

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Category:Genes mutated in mice

Category:EC 2.6.1

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