NDUFA5

Chr 7q31.32

NADH:ubiquinone oxidoreductase subunit A5

Aliases:: B13, NUFM, CI-13KD-B, UQOR13, CI-13kB
MANE:: ENST00000355749.7

OMIM: 601677 ↗NCBI: 4698 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NDUFA5 · Q16718

v62025-08-01

Predicted Aligned Error matrix for NDUFA5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.6/ 100

Confident

116 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)42%
Low(50–70)3%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

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

Disease associations (Open Targets)

type 2 diabetes mellitus
0.62
diabetes mellitus
0.59
neurodegenerative disease
0.55
Parkinson disease
0.54
multiple sclerosis
0.49
Alzheimer disease
0.47
lysosomal storage disease
0.46
polycystic ovary syndrome
0.42
gestational diabetes
0.41
Insulin resistance
0.40

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 5

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