NDUFAB1

Chr 16

NADH:ubiquinone oxidoreductase subunit AB1

Also known as: ACP, ACP1, FASN2A, SDAP, mt-ACP, mtACP

NCBI Gene: 4706 ENSG00000004779 UniProt: O14561 OMIM: 603836

The NDUFAB1 protein functions as an accessory subunit of mitochondrial respiratory chain complex I and serves as a regulatory component of the iron-sulfur cluster assembly machinery that is essential for mitochondrial protein biogenesis. Mutations cause autosomal recessive mitochondrial complex I deficiency presenting with early-onset neurodegeneration, developmental delay, and multisystem involvement including cardiac and hepatic dysfunction. The gene shows moderate constraint against loss-of-function variants, consistent with its essential role in mitochondrial energy metabolism.

OMIM ResearchSummary from RefSeq, UniProt

Enables mitochondrial large ribosomal subunit binding activity and structural molecule activity. Involved in [2Fe-2S] cluster assembly; mitochondrial large ribosomal subunit assembly; and protein lipoylation. Located in mitochondrial inner membrane. Part of mitochondrial [2Fe-2S] assembly complex and respiratory chain complex I. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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