功能： catalytic activity:2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.,disease: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.,enzyme regulation:Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.,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.,PTM:Glycosylated.,similarity:Belongs to the NTE family.,similarity:Contains 1 patatin domain.,similarity:Contains 3 cyclic nucleotide-binding domains.,subcellular location:Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.,tissue specificity:Expressed in brain, placenta, kidney, neuron and skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass type III membrane protein .
组织表达： Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
功能： catalytic activity:2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.,disease: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.,enzyme regulation:Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.,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.,PTM:Glycosylated.,similarity:Belongs to the NTE family.,similarity:Contains 1 patatin domain.,similarity:Contains 3 cyclic nucleotide-binding domains.,subcellular location:Anchored to the cytoplasmic face of the endoplasmic reticulum by its amino-terminal transmembrane segment.,tissue specificity:Expressed in brain, placenta, kidney, neuron and skeletal muscle.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Endoplasmic reticulum membrane ; Single-pass type III membrane protein .
组织表达： Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.
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