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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PNPLA6 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10908
Official gene symbolPNPLA6
Full namepatatin-like phospholipase domain containing 6
Aliases,NTE,NTEMND,SPG39,sws,
Gene summaryThis 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]
LocationChromosome: 19   Locus: 19p13.3-p13.2
Gene position7599038 - 7626653  Map Viewer
Gene orientationplus
Gene size27616 bp
Gene sequence
OMIM ID603197