Disease-gene associations mined from literature

Literature associating PPAPDC2 and Coffin-Siris syndrome 2

PPAPDC2 [ENSP00000371307]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM