NDUFB11

Chr X

NADH:ubiquinone oxidoreductase subunit B11

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

NCBI Gene: 54539 ENSG00000147123 UniProt: Q9NX14

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 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 ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLinear skin defects with multiple congenital anomalies 3

UniProtMitochondrial complex I deficiency, nuclear type 30

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

LOF

Mechanism· G2P

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GeneReview available — NDUFB11