Symbol: Name: ID: |
PNPLA6 patatin-like phospholipase domain containing 6 GFS:5396 |
Gene name: | PNPLA6 |
Chromosome: | 19p13.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | NTE, sws |
Name Aliases: | neuropathy target esterase |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1354723 | Rat Genome Database ID: | RGD:1564611 |
HGNC ID: | HGNC:16268 | RefSeq IDs: | NM_001166111 |
Entrez Gene ID: | 10908 | Ensembl Gene ID: | ENSG00000032444 |
VEGA IDs: | UniProt ID: | Q8IY17 | |
UCSC ID: | uc002mgq.1 | OMIM ID: | 603197 |
Pubmed: | PMID9576844 PMID 16799181 PMID 19029121 | ||
CCDS IDs: | CCDSCCDS32891.1 |
Neuropathy target esterase also known as patatin-like phospholipase domain-containing protein 6 (PNPLA6) is a neuropathy target esterase enzyme that in humans is encoded by the PNPLA6 gene.
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].
Function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.
Products for PNPLA6 gene
Catalog | Product Name | Application | Company |
GFS:E05396 | patatin-like phospholipase domain containing 6; ELISA kit | ELISA | n/a |
GFS:A05396 | patatin-like phospholipase domain containing 6; Anti | ANTIBODIES | n/a |
GFS:P05396 | patatin-like phospholipase domain containing 6; Protien | Protien | n/a |