PNPLA6, Official Symbol PNPLA6provided by HGNC Official Full Name patatin like phospholipase domain containing 6provided by HGNC Primary source HGNC:HGNC:16268 See related Ensembl:ENSG00000032444 MIM:603197; AllianceGenome:HGNC:16268 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NTE; sws; BNHS; LNMS; OMCS; SPG39; NTEMND; iPLA2delta Summary 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] Expression Ubiquitous expression in lung (RPKM 16.4), testis (RPKM 15.9) and 25 other tissues See more Orthologs mouse all