NDUFB10

Chr 16

NADH:ubiquinone oxidoreductase subunit B10

Also known as: MC1DN35, PDSW

NCBI Gene: 4716 ENSG00000140990 UniProt: O96000

This protein is an accessory subunit required for the functional assembly of mitochondrial respiratory chain complex I, which transfers electrons from NADH to ubiquinone in the electron transport chain. Mutations cause mitochondrial complex I deficiency, nuclear type 35, inherited in an autosomal recessive pattern. Complex I deficiencies typically affect high-energy demanding tissues and can present with variable neurological, cardiac, and hepatic manifestations.

ResearchSummary from RefSeq, OMIM, UniProt

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 35. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

DNmechanism

Clinical Summary— NDUFB10

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Gene-Disease Validity (ClinGen)

mitochondrial disease · ARModerate

Moderate evidence — consider for supplementary testing

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic· 76 VUS of 124 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

gnomad: TimeoutError: The operation was aborted due to timeout

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.6648th %ile

GOF

0.5170th %ile

LOF

0.1697th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

124 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic1

VUS76

Likely Benign33

Benign6

Conflicting2

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	1	0	0	1
Likely Pathogenic	0	0	1	0	1
VUS	4	69	3	0	76
Likely Benign	0	5	10	18	33
Benign	0	0	2	4	6
Conflicting	—				2
Total	4	75	16	22	119

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

40 pathogenic / likely-pathogenic (of 58) ClinVar copy-number / structural variants overlap NDUFB10 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →