NDUFA9

Chr 12AR

NADH:ubiquinone oxidoreductase subunit A9

Also known as: CC6, CI-39k, CI39k, COQ11, MC1DN26, NDUFS2L, SDR22E1

NCBI Gene: 4704ENSG00000139180UniProt: Q16795OMIM: 603834

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 26MIM #618247
AR

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
0
Active trials
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — NDUFA9
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.005
Z-score 2.84
OE 0.35 (0.21–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.09Z-score
OE missense 0.98 (0.88–1.10)
226 obs / 229.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.21–0.64)
0≤0.351.4
Missense OE?0.98 (0.88–1.10)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 8 / 22.6Missense obs/exp: 226 / 229.7Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDUFA9 · 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