NDUFS7

Chr 19

NADH:ubiquinone oxidoreductase core subunit S7

Also known as: CI-20, CI-20KD, MC1DN3, MY017, PSST

NCBI Gene: 374291 ENSG00000115286 UniProt: O75251

This protein is a subunit of mitochondrial respiratory complex I (NADH:ubiquinone oxidoreductase) that functions in electron transfer from NADH to the respiratory chain. Biallelic mutations cause autosomal recessive mitochondrial complex I deficiency, which presents as Leigh syndrome with severe neurological deterioration and characteristic bilaterally symmetrical necrotic lesions in subcortical brain regions. The pathogenic mechanism involves impaired mitochondrial electron transport and cellular energy production.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 3

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

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

0.39

LOEUF

LOF

Mechanism· G2P

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GeneReview available — NDUFS7