NDUFB8

Chr 10AR

NADH:ubiquinone oxidoreductase subunit B8

Also known as: ASHI, CI-ASHI, MC1DN32

NCBI Gene: 4714ENSG00000166136UniProt: O95169OMIM: 602140

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 32MIM #618252
AR

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
LOF
Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.007
Z-score 1.61
OE 0.47 (0.24–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.11Z-score
OE missense 1.03 (0.89–1.20)
121 obs / 117.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.47 (0.24–0.98)
0≤0.351.4
Missense OE?1.03 (0.89–1.20)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 5 / 10.7Missense obs/exp: 121 / 117.5Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NDUFB8 · 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.

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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