Literature associating PTDSS1 and PHARC syndrome
Phosphatidylserine synthase 1; 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.
Synonyms: PTDSS1, PTDSS1p, hPTDSS1, B4DE85, J3KNR6 ...