NDUFA10

Chr 2AR

NADH:ubiquinone oxidoreductase subunit A10

Also known as: CI-42KD, CI-42k, MC1DN22

The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 22MIM #618243
AR

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.10
LOEUF
DN
Mechanism· predicted
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GeneReview available — NDUFA10
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.10LOEUF
pLI 0.000
Z-score 1.23
OE 0.70 (0.461.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.36Z-score
OE missense 1.07 (0.961.21)
206 obs / 191.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.461.10)
00.351.4
Missense OE?1.07 (0.961.21)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 14 / 20.0Missense obs/exp: 206 / 191.9Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NDUFA10 · 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

No active trials found for this gene.

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