FDXR

Chr 17AR

ferredoxin reductase

Also known as: ADR, ADXR, ANOA, MMDS9B

NCBI Gene: 2232 ENSG00000161513 UniProt: P22570 OMIM: 103270

The protein initiates electron transport for mitochondrial cytochromes P450 by transferring electrons from NADPH, functioning as a mitochondrial flavoprotein essential for cellular metabolism. Autosomal recessive mutations cause auditory neuropathy with optic atrophy and multiple mitochondrial dysfunctions syndrome 9B through loss of function. The pathogenic mechanism involves disrupted mitochondrial electron transport leading to impaired cellular energy production.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Auditory neuropathy and optic atrophyMIM #617717

Multiple mitochondrial dysfunctions syndrome 9BMIM #620887

Clinical highlights

Gene-disease validity (ClinGen)

FDXR-related optic atrophy mitochondrial dysfunction syndrome · ARDefinitivesufficient evidence for diagnostic panels

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.82

LOEUF

LOF

Mechanism· G2P