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(Redirected from PTDSS1)
Protein-coding gene in the species Homo sapiens
Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene.
Function
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. .
Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O (March 2009). "Purification and characterization of human phosphatidylserine synthases 1 and 2". Biochem. J. 418 (2): 421–9. doi:10.1042/BJ20081597. PMID19014349. S2CID31168340.
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 (January 2014). "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nat. Genet. 46 (1): 70–6. doi:10.1038/ng.2829. hdl:10400.4/1596. PMID24241535. S2CID24824535.
