NDUFB7

Chr 19AR

NADH:ubiquinone oxidoreductase subunit B7

Also known as: B18, CI-B18, MC1DN39

NCBI Gene: 4713 ENSG00000099795 UniProt: P17568 OMIM: 603842

The protein is an accessory subunit of mitochondrial complex I (NADH dehydrogenase), which transfers electrons from NADH to ubiquinone in the respiratory chain. Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, though the clinical phenotype remains incompletely characterized. The gene shows low constraint to loss-of-function variants, which is consistent with recessive inheritance patterns.

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 composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Mitochondrial complex I deficiency, nuclear type 39MIM #620135

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARLimitednot for standalone diagnostic reporting

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.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.67

LOEUF

LOF

Mechanism· G2P