FDXR
entrez
2232
canonical
uniprot
P22570
canonical
ensembl
ENSG00000161513
resolver
ensp
ENSP00000293195
resolver
ensp
ENSP00000408595
resolver
ensp
ENSP00000414172
resolver
ensp
ENSP00000416515
resolver
ensp
ENSP00000445432
resolver
ensp
ENSP00000462183
resolver
ensp
ENSP00000462972
resolver
enst
ENST00000293195
resolver
enst
ENST00000413947
resolver
enst
ENST00000442102
resolver
enst
ENST00000544854
resolver
enst
ENST00000581530
resolver
enst
ENST00000582944
resolver
genesymbol
FDXR
resolver
genesymbol_syn
ADXR
resolver
hgnc
HGNC:3642
resolver
uniprot
A0A0A0MSZ4
resolver
uniprot
A0A0A0MT64
resolver
uniprot
A0A0A0MTN9
resolver
uniprot
A0A0A0MTR6
resolver
uniprot
A0A0C4DFN8
resolver
uniprot
A0A0C4DGN7
resolver
uniprot
B4DDI7
resolver
uniprot
B4DHX5
resolver
uniprot
B4DQQ4
resolver
uniprot
B4DX24
resolver
uniprot
B7Z7G2
resolver
uniprot
E7EQC1
resolver
uniprot
Q13716
resolver
uniprot
Q4PJI0
resolver
uniprot
Q9BU12
resolver
uniprot_entry
A0A0A0MSZ4_HUMAN
resolver
uniprot_entry
A0A0A0MT64_HUMAN
resolver
uniprot_entry
A0A0A0MTN9_HUMAN
resolver
uniprot_entry
A0A0A0MTR6_HUMAN
resolver
uniprot_entry
A0A0C4DFN8_HUMAN
resolver
uniprot_entry
A0A0C4DGN7_HUMAN
resolver
uniprot_entry
ADRO_HUMAN
resolver
uniprot_sec
B4DDI7
resolver
uniprot_sec
B4DHX5
resolver
uniprot_sec
B4DQQ4
resolver
uniprot_sec
B4DX24
resolver
uniprot_sec
B7Z7G2
resolver
uniprot_sec
E7EQC1
resolver
uniprot_sec
Q13716
resolver
uniprot_sec
Q4PJI0
resolver
uniprot_sec
Q9BU12
resolver
amino_acid_sequence
MASRCWRWWGWSAWPRTRLPPAGSTPSFCHHFSTQEKTPQICVVGSGPAGFYTAQHLLKHPQAHVDIYEKQPVPFGLVRFGVAPDHPEVKNVINTFTQTAHSGRCAFWGNVEVGRDVTVPELREAYHAVVLSYGAEDHRALEIPGEELPGVCSARAFVGWYNGLPENQELEPDLSCDTAVILGQGNVALDVARILLTPPEHLERTDITKAALGVLRQSRVKTVWLVGRRGPLQVAFTIKELREMIQLPGARPILDPVDFLGLQDKIKEVPRPRKRLTELLLRTATEKPGPAEAARQASASRAWGLRFFRSPQQVLPSPDGRRAAGVRLAVTRLEGVDEATRAVPTGDMEDLPCGLVLSSIGYKSRPVDPSVPFDSKLGVIPNVEGRVMDVPGLYCSGWVKRGPTGVIATTMTDSFLTGQMLLQDLKAGLLPSGPRPGYAAIQALLSSRGVRPVSFSDWEKLDAEEVARGQGTGKPREKLVDPQEMLRLLGH
uniprot
proteins
disease_involvement
DISEASE: Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]: 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. {ECO:0000269|PubMed:28965846}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple mitochondrial dysfunctions syndrome 9B (MMDS9B) [MIM:620887]: 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. {ECO:0000269|PubMed:29040572, ECO:0000269|PubMed:30250212, ECO:0000269|PubMed:33348459, ECO:0000269|PubMed:37046037, ECO:0000269|PubMed:37481223}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.18.1.-
uniprot
proteins
ec_number
1.18.1.6
uniprot
proteins
function
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 (By similarity). Also acts as a ferredoxin--NADP(+) reductase essential for coenzyme Q biosynthesis: together with FDX2, transfers the electrons required for the hydroxylation reaction performed by COQ6 (PubMed:38425362). {ECO:0000250|UniProtKB:P08165, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
53837
uniprot
proteins
pathway_participation
PATHWAY: Steroid metabolism. {ECO:0000250|UniProtKB:P08165}.
uniprot
proteins
protein_family
Ferredoxin--NADP reductase type 1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2236061
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2845396
uniprot
proteins
pubmed
28965846
uniprot
proteins
pubmed
29040572
uniprot
proteins
pubmed
29554255
uniprot
proteins
pubmed
30250212
uniprot
proteins
pubmed
33348459
uniprot
proteins
pubmed
37046037
uniprot
proteins
pubmed
37481223
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
491
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:29040572}. Mitochondrion inner membrane {ECO:0000250|UniProtKB:P48360}; Peripheral membrane protein {ECO:0000305}.
uniprot
proteins