Aliases for PNPLA6 Gene
External Ids for PNPLA6 Gene
Previous GeneCards Identifiers for PNPLA6 Gene
This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
GeneCards Summary for PNPLA6 Gene
PNPLA6 (Patatin Like Phospholipase Domain Containing 6) is a Protein Coding gene. Diseases associated with PNPLA6 include Laurence-Moon Syndrome and Boucher-Neuhauser Syndrome. Among its related pathways are PI Metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA7.
UniProtKB/Swiss-Prot for PNPLA6 Gene
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.