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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG39
Location	19p13.2
Name	spastic paraplegia 39
Other name(s)	motor neuron disease due to NTE mutations
Corresponding gene	PNPLA6
Other symbol(s)	MND , MNDN
Main clinical features	progressive spastic paraplegia and distal muscle wasting complicated: spastic paraplegia associated with wasting of distal upper and lower extremity muscles
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	neuropathy target esterase (NTE), an integral membrane protein present in all neurons and in some non-neural-cell types of vertebrates.

Remark(s)

supports the role of NTE abnormalities in axonopathy produced by neuropathic organophosphorus (OP) compounds.