NDUFA5

Chr 7

NADH:ubiquinone oxidoreductase subunit A5

Also known as: B13, CI-13KD-B, CI-13kB, NUFM, UQOR13

NCBI Gene: 4698ENSG00000128609UniProt: Q16718OMIM: 601677

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.002
Z-score 0.88
OE 0.66 (0.34–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.20Z-score
OE missense 0.93 (0.74–1.16)
55 obs / 59.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.34–1.37)
0≤0.351.4
Missense OE?0.93 (0.74–1.16)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 5 / 7.6Missense obs/exp: 55 / 59.3Syn Z: -0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDUFA5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients