NADH:ubiquinone oxidoreductase subunit C2
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalmitochondrial complex I deficiency, nuclear type 36
type 2 diabetes mellitus
diabetes mellitus
Parkinson disease
neurodegenerative disease
multiple sclerosis
mitochondrial disease
Alzheimer disease
lysosomal storage disease
polycystic ovary syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NADH dehydrogenase [ubiquinone] 1 subunit C2
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis but required for the complex assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone
NDUFC2 · O95298
Mean pLDDT
90.9/ 100
Very high
119 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
