PTDSS1, Official Symbol PTDSS1provided by HGNC Official Full Name phosphatidylserine synthase 1provided by HGNC Primary source HGNC:HGNC:9587 See related Ensembl:ENSG00000156471 MIM:612792; AllianceGenome:HGNC:9587 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LMHD; PSS1; PSSA Summary 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] Expression Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues See more Orthologs mouse all