| Entrez Gene ID |
10908 |
| Official Gene Symbol |
PNPLA6 (GeneCards) |
| Full name |
patatin like phospholipase domain containing 6 |
| Location |
19p13.2 |
| Other ids |
Vega : OTTHUMG00000182094
MIM : 603197
HGNC : HGNC:16268
Ensembl : ENSG00000032444
|
| Other names |
NTE,
sws,
BNHS,
LNMS,
OMCS,
SPG39,
NTEMND,
iPLA2delta
|
| 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] |