NADH:ubiquinone oxidoreductase complex assembly factor 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
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 pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal+6 more panels — install the extension to see the full list inline on any page.
mitochondrial complex I deficiency
Leigh syndrome
mitochondrial complex I deficiency, nuclear type 10
mitochondrial complex I deficiency, nuclear type 1
type 2 diabetes mellitus
diabetes mellitus
polycystic ovary syndrome
hereditary disease
gestational diabetes
Insulin resistance
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371). Is involved in the initial steps of cilia formation, including removal of CP110 from the mother centrioles, docking of membrane vesicles to the mother centrioles, and establishment of the transition zone (PubMed:38949024)
Curated MONDO disease pages that list NDUFAF2 among their top associated genes.
NDUFAF2 · Q8N183
Mean pLDDT
78.5/ 100
Confident
169 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
