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GENATLAS PHENOTYPE

last update : 21/08/2006

Symbol	NARP
Location	mt
Name	neuropathy, ataxia and retinitis pigmentosa
Corresponding gene	MT-ATP6
Other symbol(s)	MTRP1
Main clinical features	proximal muscle weakness, sensory neuropathy, dementia and hypocitrullinaemia (ATPase 6 defect), see SNE
Genetic determination	mitochondrial
Function/system disorder	eye
Type	disease

Gene product

Name	ATPase 6 (8993 nt)

Remark(s)

mutation activates the actin-NFE2L2 signaling of antioxidant defenses