Literature associating PNPLA6 and PHARC syndrome
Patatin-like phospholipase domain-containing protein 6; 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; Patatin like phospholipase domain containing
Synonyms: PNPLA6, PNPLA6p, hPNPLA6, M0QYF5, M0QZD1 ...