Species Human Entrez 4729 | Human Mouse Ensembl ENSG00000178127 | |
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Aliases NDUFV2, CI-24k, NADH:ubiquinone oxidoreductase core subunit V2 External IDs MGI: 1920150 HomoloGene: 10884 GeneCards: NDUFV2 | ||
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial is an enzyme that in humans is encoded by the NDUFV2 gene.
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. 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. However, the majority of cases are caused by mutations in nuclear-encoded genes. 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.