NDUFA3

Chr 19q13.42

NADH:ubiquinone oxidoreductase subunit A3

Aliases:: B9
MANE:: ENST00000485876.6

OMIM: 603832 ↗NCBI: 4696 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NDUFA3 · O95167

v62025-08-01

Predicted Aligned Error matrix for NDUFA3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.8/ 100

Very high

84 residues

Confidence breakdown

Very high(≥ 90)98%
Confident(70–90)2%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Mitochondrial disorder with complex I deficiency
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

type 2 diabetes mellitus
0.61
diabetes mellitus
0.58
polycystic ovary syndrome
0.42
gestational diabetes
0.41
Insulin resistance
0.40
prediabetes syndrome
0.40
type 1 diabetes mellitus
0.40
metabolic syndrome
0.39
obesity disorder
0.39
Obesity
0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3

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