NP_006693.3
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
143,351 Da
NCBI Official Full Name
neuropathy target esterase isoform b
NCBI Official Synonym Full Names
patatin like phospholipase domain containing 6
NCBI Official Synonym Symbols
NTE; sws; BNHS; LNMS; OMCS; SPG39; NTEMND; iPLA2delta [Similar Products]
NCBI Protein Information
neuropathy target esterase
UniProt Protein Name
Neuropathy target esterase
UniProt Synonym Protein Names
Patatin-like phospholipase domain-containing protein 6
UniProt Synonym Gene Names
UniProt Entry Name
PLPL6_HUMAN
NCBI Summary for PNPLA6
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]
UniProt Comments for PNPLA6
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.
Protein type: Hydrolase; Membrane protein, integral; EC 3.1.1.5
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; membrane
Molecular Function: lysophospholipase activity
Biological Process: angiogenesis; developmental process; glycerophospholipid catabolic process; organ morphogenesis; phosphatidylcholine metabolic process
Disease: Boucher-neuhauser Syndrome; Laurence-moon Syndrome; Oliver-mcfarlane Syndrome; Spastic Paraplegia 39, Autosomal Recessive
Research Articles on PNPLA6
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Pathways associated with PNPLA6 blocking peptide
Diseases associated with PNPLA6 blocking peptide
Organs/Tissues associated with PNPLA6 blocking peptide
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