FDXR: Ferredoxin Reductase Gene
Mitochondrial electron transfer and iron-sulfur cluster biogenesis
Gene Information Card
| Symbol | FDXR |
|---|---|
| Full Name | Ferredoxin Reductase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 2232 ncbi.nlm.nih.gov/gene/2232 |
| Ensembl ID | ENSG00000161513 |
| UniProt ID | P22570 |
| OMIM ID | 103270 |
| HGNC ID | 3632 |
| Aliases | ADXR, AR, LAD, ADR |
Description
FDXR encodes a mitochondrial flavoprotein that transfers electrons from NADPH to ferredoxin (adrenodoxin), which then supplies electrons to mitochondrial cytochrome P450 enzymes involved in steroidogenesis, bile acid synthesis, and vitamin D metabolism. It also participates in iron-sulfur cluster biogenesis and heme biosynthesis. Mutations in FDXR cause mitochondrial dysfunction and are associated with various metabolic and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 36 | Impaired electron transfer to ferredoxin disrupts mitochondrial respiration and iron-sulfur cluster assembly | ClinVar, OMIM |
| Adrenoleukodystrophy-like phenotype | Defective steroidogenesis and very long-chain fatty acid metabolism due to reduced P450 activity | OMIM |
| Hereditary spastic paraplegia | Neuronal degeneration linked to mitochondrial oxidative stress and iron homeostasis disruption | ClinVar |
| Primary adrenal insufficiency | Insufficient cortisol and aldosterone synthesis due to impaired mitochondrial P450 electron supply | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | High |
| Liver | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Brain | 4.7 | Medium |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 9.8 | Hepatocellular carcinoma |
| A549 | 7.4 | Lung adenocarcinoma |
| SH-SY5Y | 6.5 | Neuroblastoma |
| HEK293 | 5.9 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | Rare | Reduced enzymatic activity and mitochondrial dysfunction |
| c.589C>T (p.Arg197Trp) | Missense | Rare | Impaired NADPH binding and electron transfer |
| c.1006C>T (p.Arg336Cys) | Missense | Rare | Decreased protein stability and loss of function |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Severe reduction in ferredoxin reduction activity |
Mutation functional classification
Loss of Function (LOF)
Most FDXR missense mutations reduce or abolish electron transfer activity, leading to mitochondrial dysfunction and impaired steroidogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some mutations may exert dominant-negative effects by interfering with dimerization or substrate binding, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • NADPH binding | • ferredoxin-NADP+ reductase activity |
| • electron transfer activity | • mitochondrion |
| • steroid metabolic process | • iron-sulfur cluster assembly |
Pathways
• Mitochondrial electron transport (NADPH to ferredoxin)
• Cytochrome P450 electron transfer pathway
• Steroid hormone biosynthesis
• Bile acid biosynthesis
Protein Summary
FDXR (ferredoxin reductase) is a 50.6 kDa mitochondrial flavoprotein that catalyzes the transfer of electrons from NADPH to ferredoxin (adrenodoxin). This electron shuttle is essential for the function of mitochondrial cytochrome P450 enzymes, including those involved in steroidogenesis (CYP11A1, CYP11B1, CYP11B2), vitamin D metabolism (CYP27B1, CYP24A1), and bile acid synthesis (CYP27A1). FDXR also plays a role in iron-sulfur cluster biogenesis and heme biosynthesis. The protein is highly expressed in steroidogenic tissues such as adrenal gland and gonads, and to a lesser extent in liver, kidney, and brain. Mutations in FDXR cause mitochondrial complex I deficiency and are associated with adrenal insufficiency, neurological disorders, and spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FDXR Knockout HEK293 Cell Line | EDJ-KQ50270 | Human | 2232 | Details Get a Quote |
| FDXR Knockout HeLa Cell Line | EDJ-KQ53215 | Human | 2232 | Details Get a Quote |
| FDXR Knockout A-549 Cell Line | EDJ-KQ61696 | Human | 2232 | Details Get a Quote |
| FDXR Knockout HCT 116 Cell Line | EDJ-KQ70183 | Human | 2232 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
