NADH:ubiquinone oxidoreductase subunit S4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
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 pseudoautosomal+7 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 1
type 2 diabetes mellitus
diabetes mellitus
mitochondrial disease
inborn mitochondrial metabolism disorder
hereditary disease
Abnormality of the skeletal system
hair color
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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
Curated MONDO disease pages that list NDUFS4 among their top associated genes.
NDUFS4 · O43181
Mean pLDDT
84.1/ 100
Confident
175 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
