NDUFB11

Chr XX-linkedXLD

NADH:ubiquinone oxidoreductase subunit B11

Also known as: CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3

NCBI Gene: 54539 ENSG00000147123 UniProt: Q9NX14 OMIM: 300403

The NDUFB11 protein is an accessory subunit of mitochondrial complex I (NADH dehydrogenase), which transfers electrons from NADH to ubiquinone in the respiratory chain. Mutations cause X-linked mitochondrial complex I deficiency and linear skin defects with multiple congenital anomalies 3, affecting both metabolic and developmental processes. This gene shows high constraint against loss-of-function variants (LOEUF 0.556), indicating that such mutations are likely to have significant clinical consequences.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismX-linked/XLDLOEUF 0.562 OMIM phenotypes

Clinical Summary— NDUFB11

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Gene-Disease Validity (ClinGen)

mitochondrial disease · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.

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ClinVar Variants

11 unique Pathogenic / Likely Pathogenic· 41 VUS of 102 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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GeneReview available — NDUFB11

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.56LOEUF

pLI 0.804

Z-score 2.15

OE 0.00 (0.00–0.56)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.51Z-score

OE missense 0.82 (0.66–1.03)

54 obs / 65.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.56)

0≤0.351.4

Missense OE?0.82 (0.66–1.03)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 0 / 5.4Missense obs/exp: 54 / 65.7Syn Z: -0.29

ClinVar Variant Classifications

102 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic9

VUS41

Likely Benign30

Benign5

Conflicting4

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	2	0	0	0	2
Likely Pathogenic	6	3	0	0	9
VUS	1	36	3	1	41
Likely Benign	1	3	10	16	30
Benign	0	3	2	0	5
Conflicting	—				4
Total	10	45	15	17	91

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

View in ClinVar →

87 pathogenic / likely-pathogenic (of 98) ClinVar copy-number / structural variants overlap NDUFB11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →