Entrez gene ID | | 10908 |
Official gene symbol | | PNPLA6 |
Full name | | patatin-like phospholipase domain containing 6 |
Aliases | | ,NTE,NTEMND,SPG39,sws, |
Gene 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] |
Location | | Chromosome: 19 Locus: 19p13.3-p13.2 |
Gene position | | 7599038 - 7626653 Map Viewer |
Gene orientation | | plus |
Gene size | | 27616 bp |
Gene sequence |
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OMIM ID | | 603197 |
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