9b4f

Structural highlights

Disease

PTSS1_HUMAN Lenz-Majewski hyperostotic dwarfism. The disease is caused by variants affecting the gene represented in this entry.

Function

PTSS1_HUMAN Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:19014349, PubMed:24241535). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:19014349, PubMed:24241535).^{[1] [2]}

References

1. ↑ Tomohiro S, Kawaguti A, Kawabe Y, Kitada S, Kuge O. Purification and characterization of human phosphatidylserine synthases 1 and 2. Biochem J. 2009 Mar 1;418(2):421-9. PMID:19014349 doi:10.1042/BJ20081597
2. ↑ 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. Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nat Genet. 2014 Jan;46(1):70-6. PMID:24241535 doi:10.1038/ng.2829