FDXR
Chr 17ARferredoxin reductase
Also known as: ADR, ADXR, ANOA, MMDS9B
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FDXR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools