NADH:ubiquinone oxidoreductase subunit B8
Annotations refreshed 1 month 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 pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomalmitochondrial complex I deficiency, nuclear type 32
mitochondrial complex I deficiency
type 2 diabetes mellitus
diabetes mellitus
neurodegenerative disease
polycystic ovary syndrome
metabolic syndrome
obesity disorder
gestational diabetes
Insulin resistance
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, 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 NDUFB8 among their top associated genes.
NDUFB8 · O95169
Mean pLDDT
87.8/ 100
Confident
186 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
