NTE 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. Defects in PNPLA6 are the cause of spastic paraplegia autosomal recessive type 39 (SPG39); 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. Belongs to the NTE family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.1.5; Hydrolase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component:  endoplasmic reticulum; endoplasmic reticulum membrane; integral component of membrane
Molecular Function:  hydrolase activity; lysophospholipase activity
Biological Process:  developmental process; glycerophospholipid catabolic process; phosphatidylcholine metabolic process
Disease: Boucher-neuhauser Syndrome; Laurence-moon Syndrome; Oliver-mcfarlane Syndrome; Spastic Paraplegia 39, Autosomal Recessive
Reference #:  Q8IY17 (UniProtKB)
Alt. Names/Synonyms: Neuropathy target esterase; NTE; NTEMND; patatin-like phospholipase domain containing 6; Patatin-like phospholipase domain-containing protein 6; PLPL6; PNPLA6; SPG39; sws
Gene Symbols: PNPLA6
Molecular weight: 149,995 Da
Basal Isoelectric point: 8.02  Predict pI for various phosphorylation states
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NTE

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene  |  InnateDB