Recombinant fragment Predicted to work with:
Mouse, Cow, Human, Orangutan
Recombinant fragment: ESRRADVLAF PSSGFTDLAE IVSRIEPPTS YVSDGCADGE ESDCLTEYEE DAGPDCSRDE GGSPEGASPS TASEMEEEKS ILRQRRCLPQ EPPGSATDA, corresponding to amino acids 1229-1327 of Human NTE with a tag of 26 kDa.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesELISA: Use at an assay dependent dilution.
WB: Use at a concentration of 1 - 5 µg/ml. Predicted molecular weight: 150 kDa.
This antibody has only been tested in WB against the recombinant fragment used as immunogen. We have no data on the detection of endogenous protein.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionPhospholipase 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.
Tissue specificityExpressed in brain, placenta, kidney, neuron and skeletal muscle.
Involvement in diseaseDefects in PNPLA6 are the cause of spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]; also known as NTE-related motor neuron disorder (NTEMND). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles.
Sequence similaritiesBelongs to the NTE family. Contains 3 cyclic nucleotide-binding domains. Contains 1 patatin domain.
Cellular localizationEndoplasmic reticulum membrane. Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.