NDUFV1

Chr 11AR

NADH:ubiquinone oxidoreductase core subunit V1

Also known as: CI-51K, CI51KD, MC1DN4, UQOR1

NCBI Gene: 4723 ENSG00000167792 UniProt: P49821 OMIM: 161015

The protein is a 51 kDa subunit of mitochondrial complex I that contains the NADH-binding site and flavin mononucleotide and iron-sulfur binding sites essential for electron transport in oxidative phosphorylation. Biallelic mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, presenting as myopathies, encephalomyopathies, and neurodegenerative disorders including Leigh syndrome. Disease results from loss of function leading to impaired mitochondrial energy production.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex I deficiency, nuclear type 4MIM #618225

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.21

LOEUF

LOF

Mechanism· G2P

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GeneReview available — NDUFV1