Disease-gene associations mined from literature

Literature associating PTDSS1 and PHARC syndrome

PTDSS1 [ENSP00000430548]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM