NDUFA6

Chr 22

NADH:ubiquinone oxidoreductase subunit A6

Also known as: B14, CI-B14, LYRM6, MC1DN33, NADHB14

NCBI Gene: 4700 ENSG00000184983 UniProt: P56556

The protein is an accessory subunit of mitochondrial Complex I (NADH dehydrogenase) that is required for proper enzyme assembly and functions in electron transfer from NADH to the respiratory chain. Mutations cause mitochondrial complex I deficiency, nuclear type 33, which follows autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation (pLI 0.0001, LOEUF 1.714), suggesting haploinsufficiency is not the primary disease mechanism.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 33

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARModerateconsider for supplementary testing

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)

—

P/LP submissions

—

P/LP missense

1.71

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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