Literature associating DDHD2 and PHARC syndrome
SAM, WWE and DDHD domain-containing protein 1; Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4- phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane; Sterile alpha motif domain containing
Synonyms: DDHD2, DDHD2p, hDDHD2, B3KXB5, DDHD2-001 ...