DISEASES

Disease-gene associations mined from literature

Literature associating PNPLA6 and autosomal recessive spinocerebellar ataxia 21

PNPLA6 [ENSP00000407509]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM