Association·arcadia
NAXE disruption causes neurometabolic and mitochondrial disorder
Claim that biallelic mutations or deficiency in NAXE causes a lethal neurometabolic and mitochondrial encephalopathy disorder by impairing NAD(P)HX repair.
Confidence
100%
active
Evidence Quote
“NAXE deficiency causes NAXE-related mitochondrial encephalopathy”
Relationship
NAXE protein causes NAXE-related neurometabolic/mitochondrial disorder