Anti-Human/Mouse/Rat PNPLA6 Polyclonal Antibody

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. PNPLA6 (Patatin Like Phospholipase Domain Containing 6) is a Protein Coding gene. Diseases associated with PNPLA6 include Laurence-Moon Syndrome and Spastic Paraplegia 39, Autosomal Recessive. Among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA7.