NADH:ubiquinone oxidoreductase core subunit V2
Annotations refreshed 12 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
mitochondrial complex I deficiency, nuclear type 7
mitochondrial complex I deficiency
type 2 diabetes mellitus
Parkinson disease
diabetes mellitus
neurodegenerative disease
multiple sclerosis
Alzheimer disease
lysosomal storage disease
hereditary disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (Probable). Parts of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (Probable). Contains one iron-sulfur cluster (Probable)
Curated MONDO disease pages that list NDUFV2 among their top associated genes.
NDUFV2 · P19404
Mean pLDDT
86.8/ 100
Confident
249 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
