FDXR

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.

Full Name

Ferredoxin Reductase

Research Area

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.

Biological Process

Cholesterol metabolic process Source: UniProtKB-UniPathway
Generation of precursor metabolites and energy Source: ProtInc
Steroid biosynthetic process Source: ProtInc
Ubiquinone biosynthetic process Source: GO_Central

Cellular Location

Mitochondrion inner membrane

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.