{"symbol":"PTDSS1","synonyms":["PSSA","LMHD"],"name":"phosphatidylserine synthase 1","description":"The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine 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]","ncbiEntrezGeneId":9791,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9791","proteins":[{"symbol":"PTSS1_HUMAN","href":"/api/1.0/protein/PTSS1_HUMAN"}],"hgncRootFamilies":[]}