PNPLA6
MIM.603197 19p13.3
Covalent modification of neuropathy target esterase (NTE) by certain organophosphorus esters (OPs) leads, after a delay of several days, to a degeneration of long axons in the spinal cord and peripheral nerves.
The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target esterase (NTE) is inhibited by organophosphorylation.
Pathology
Neuropathy target esterase gene mutations cause motor neuron disease (#18313024#)
References
Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. PMID: #18313024#