NDUFV2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial is an enzyme that in humans is encoded by the NDUFV2 gene.[1][2][3]
Clinical significance
Mutations in the NDUFV2 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders.[4][5] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible.[6] However, the majority of cases are caused by mutations in nuclear-encoded genes.[7][8] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.[9]
References
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Further reading
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