Version: 8.0.0Date: Tue Jan 28 2025
Gene
PNPLA6
- Species
- Homo sapiens
- Symbol
- PNPLA6
- Name
- patatin like phospholipase domain containing 6
- Synonyms
- BNHS
- iPLA2delta
- Biotype
- protein coding gene
- Automated Description
- Enables lysophospholipase activity. Predicted to be involved in glycerophospholipid catabolic process. Predicted to act upstream of or within angiogenesis and animal organ morphogenesis. Located in cytosol and endoplasmic reticulum. Implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR14226
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Sequence Feature Viewer
- Genome location
- Chr19:7534004...7561767 + (27.76 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction