Literature associating PPAPDC2 and Coffin-Siris syndrome 2
Phosphatidic acid phosphatase type 2 domain-containing protein 2; Phosphatase that dephosphorylates presqualene diphosphate (PSDP) into presqualene monophosphate (PSMP), suggesting that it may be indirectly involved in innate immunity. PSDP is a bioactive lipid that rapidly remodels to presqualene monophosphate PSMP upon cell activation. Displays diphosphate phosphatase activity with a substrate preference for PSDP > FDP > phosphatidic acid.
Synonyms: PPAPDC2, PPAPDC2p, hPPAPDC2, PLPP6, Q8IY26 ...