FDXR
Function
Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.
Involvement in disease
Auditory neuropathy and optic atrophy
ANOA
An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts.
None
The disease is caused by variants affecting the gene represented in this entry.
Multiple mitochondrial dysfunctions syndrome 9B
MMDS9B
An autosomal recessive disorder characterized by optic and/or auditory neuropathy with onset in the first two decades of life, in some cases associated with developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Steroid metabolism; cholesterol metabolism.
Sequence Similarities
Belongs to the ferredoxin--NADP reductase type 1 family.
Cellular localization
- Mitochondrion
- Mitochondrion inner membrane
- Peripheral membrane protein
Alternative names
ADXR, FDXR, AR, Adrenodoxin reductase, Ferredoxin--NADP(+) reductase, Ferredoxin reductase