Phosphatidylserine synthase 1
Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene. [5]
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| Aliases | PTDSS1, LMHD, PSS1, PSSA, phosphatidylserine synthase 1 | ||||||||||||||||||||||||
| External IDs | OMIM: 612792 MGI: 1276575 HomoloGene: 7494 GeneCards: PTDSS1 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 8: 96.26 – 96.34 Mb | Chr 13: 66.93 – 67 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
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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
- GRCh38: Ensembl release 89: ENSG00000156471 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000021518 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Phosphatidylserine synthase 1". Retrieved 2018-06-07.
Further reading
- 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. PMID 19014349.
- Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
- 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. PMID 24241535.
- Soueid J, Kourtian S, Makhoul NJ, Makoukji J, Haddad S, Ghanem SS, Kobeissy F, Boustany RM (January 2016). "RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism". Sci Rep. 6: 19088. doi:10.1038/srep19088. PMC 4705475. PMID 26742492.
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