Phosphatidylserine synthase 1

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine synthase localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014].

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• {{cite journal |vauthors=Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O |title=Purification and characterization of human phosphatidylserine synthases 1 and 2 |journal=Biochem. J. |volume=418 |issue=2 |pages=421–9 |date=March 2009 |pmid=19014349 |doi=10.1042/BJ20081597 |s2cid=31168340 }}
• {{cite journal |vauthors=Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR |title=Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score |journal=Mol. Med. |volume=16 |issue=7–8 |pages=247–53 |date=2010 |pmid=20379614 |pmc=2896464 |doi=10.2119/molmed.2009.00159 }}
• {{cite journal |vauthors=Sousa SB, Jenkins D, Chanudet E, Tasseva G, Ishida M, Anderson G, Docker J, Ryten M, Sa J, Saraiva JM, Barnicoat A, Scott R, Calder A, Wattanasirichaigoon D, Chrzanowska K, Simandlová M, Van Maldergem L, Stanier P, Beales PL, Vance JE, Moore GE |title=Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome |journal=Nat. Genet. |volume=46 |issue=1 |pages=70–6 |date=January 2014 |pmid=24241535 |doi=10.1038/ng.2829 |hdl=10400.4/1596 |s2cid=24824535 |hdl-access=free }}
• {{cite journal |vauthors=Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS, Kobeissy F, Boustany RM |title=RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism |journal=Sci Rep |volume=6 |pages=19088 |date=January 2016 |pmid=26742492 |pmc=4705475 |doi=10.1038/srep19088 |bibcode=2016NatSR...619088S }}

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