DISEASES

Disease-gene associations mined from literature

Literature associating PNPLA6 and Laurence-Moon syndrome

PNPLA6 [ENSP00000407509]

Neuropathy target esterase; Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Synonyms:  PNPLA6,  PNPLA6p,  hPNPLA6,  A0A2R8Y7E1,  A0A384DVU0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM