Recombinant Fragment 交差が予測される動物種:
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.
追加情報ELISA: 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.
機能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.
組織特異性Expressed in brain, placenta, kidney, neuron and skeletal muscle.
関連疾患Defects 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.
配列類似性Belongs to the NTE family. Contains 3 cyclic nucleotide-binding domains. Contains 1 patatin domain.
細胞内局在Endoplasmic reticulum membrane. Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.