NDUFB6

Chr 9

NADH:ubiquinone oxidoreductase subunit B6

Also known as: B17, CI

NCBI Gene: 4712 ENSG00000165264 UniProt: O95139 OMIM: 603322

The NDUFB6 protein is an accessory subunit of mitochondrial respiratory complex I (NADH dehydrogenase), which transfers electrons from NADH to ubiquinone in the respiratory chain. Mutations cause autosomal recessive mitochondrial complex I deficiency, typically presenting in early childhood with neurological features including developmental delay, seizures, and progressive encephalopathy. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance patterns where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, 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 locates 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. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.67

LOEUF

Multiple*

Mechanism· predicted