Gene Symbol | PNPLA6 |
Entrez Gene ID | 10908 |
Full Name | patatin like phospholipase domain containing 6 |
Synonyms | BNHS,LNMS,NTE,NTEMND,OMCS,SPG39,iPLA2delta,sws |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 39, autosomal recessive, 612020 (3); Boucher-Neuhauser syndrome, 215470 (3); ?Laurence-Moon syndrome, 245800 (3); Oliver-McFarlane syndrome, 275400 (3) |