Aliases for PTDSS1 Gene
External Ids for PTDSS1 Gene
Previous GeneCards Identifiers for PTDSS1 Gene
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]
GeneCards Summary for PTDSS1 Gene
PTDSS1 (Phosphatidylserine Synthase 1) is a Protein Coding gene. Diseases associated with PTDSS1 include Lenz-Majewski Hyperostotic Dwarfism and Hypotrichosis 2. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include transferase activity. An important paralog of this gene is PTDSS2.
UniProtKB/Swiss-Prot for PTDSS1 Gene
Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. In membranes, PTDSS1 catalyzes mainly the conversion of phosphatidylcholine. Also converts, in vitro and to a lesser extent, phosphatidylethanolamine.