Biology:Phosphatidylserine synthase 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene.
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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. [provided by RefSeq, Mar 2014].
References
Further reading
- "Purification and characterization of human phosphatidylserine synthases 1 and 2". Biochem. J. 418 (2): 421–9. March 2009. doi:10.1042/BJ20081597. PMID 19014349. https://semanticscholar.org/paper/1abea254113982763bb525044d074325bf635925.
- "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. 2010. doi:10.2119/molmed.2009.00159. PMID 20379614.
- "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome". Nat. Genet. 46 (1): 70–6. January 2014. doi:10.1038/ng.2829. PMID 24241535.
- "RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism". Sci Rep 6: 19088. January 2016. doi:10.1038/srep19088. PMID 26742492. Bibcode: 2016NatSR...619088S.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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