PNPLA6
PNPLA6 (patatin-like phospholipase domain-containing protein 6, also known as NTE, sws, iPLA2delta and SPG39) is an endoplasmic reticulum-anchored phospholipase B. It deacylates intracellular phosphatidylcholine to produce glycerophosphocholine. Browse Assay Genie's current range of PNPLA6 research reagents below, or read on for the biology behind the target.
PNPLA6 is a phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho) to generate glycerophosphocholine (GroPtdCho). The deacylation occurs at both the sn-2 and sn-1 positions of PtdCho. The enzyme also catalyses the hydrolysis of several naturally occurring membrane-associated lipids. It hydrolyses lysophospholipids and monoacylglycerols, preferring the 1-acyl isomer to the 2-acyl isomer, but it does not hydrolyse di- or triacylglycerols or fatty acid amides.
The PNPLA6 protein belongs to the NTE family and sits within the HGRC patatin-like phospholipase domain-containing gene group. It is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. The PNPLA6 gene is thought to function in neurite outgrowth and process elongation during neuronal differentiation. Multiple transcript variants encoding different isoforms have been described. The mouse ortholog is Pnpla6.
The aliases reflect the protein's history: NTE stands for neuropathy target esterase, since PNPLA6 is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Mutations in the gene result in autosomal recessive spastic paraplegia, which accounts for the SPG39 designation. This makes PNPLA6 a focus for studies of lipid metabolism in the nervous system and of toxicant-induced neuropathy. Other members of the patatin-like phospholipase family include PNPLA2, PNPLA3 and PNPLA8.
PNPLA6 is the target of organophosphorus-induced neurodegeneration, and mutations in the gene cause autosomal recessive spastic paraplegia.
The enzyme deacylates phosphatidylcholine to glycerophosphocholine and hydrolyses lysophospholipids and monoacylglycerols, making it a model for membrane lipid turnover.
PNPLA6 is thought to function in neurite outgrowth and process elongation during neuronal differentiation.
As neuropathy target esterase, PNPLA6 is used to study neurotoxic effects of organophosphorus compounds and chemical warfare agents.
PNPLA6 is a phospholipase B that deacylates intracellular phosphatidylcholine at both the sn-2 and sn-1 positions, producing glycerophosphocholine. It also hydrolyses lysophospholipids and monoacylglycerols, preferring the 1-acyl isomer, and it does not hydrolyse di- or triacylglycerols or fatty acid amides.
PNPLA6 is also called NTE (neuropathy target esterase), sws, iPLA2delta and SPG39. The NTE name reflects its role as the target of organophosphorus-induced neurodegeneration, and SPG39 reflects the spastic paraplegia caused by mutations in the gene. Multiple transcript variants encode different isoforms.
Mutations in PNPLA6 result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds. A mouse ortholog, Pnpla6, exists. Check the datasheet of any product for its validated reactivity.
Other patatin-like phospholipase domain-containing proteins involved in lipid metabolism.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q8IY17; product specifications from Assay Genie datasheets.