PNPLA6 Back

patatin-like phospholipase domain containing 6

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PNPLA6
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.

Community Annotation of PNPLA6 Add / Edit PNPLA6: Annotations

No community annotations yet for PNPLA6.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PNPLA6 is highly significantly mutated in
(none)
PNPLA6 is significantly mutated in
(none)
PNPLA6 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PNPLA6