1. Gene
  2. FDXR - ferredoxin reductase Gene

FDXR - ferredoxin reductase Gene

Homo sapiens

Also known as ADR; ADXR; ANOA

Gene ID: 2232 | Gene type: protein coding

About FDXR

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,862,497-74,872,994 (from NCBI)

This gene has 20 transcripts (splice variants), 176 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 75.2), testis (RPKM 17.3) and 5 other tissues.

Summary

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. [provided by RefSeq, Apr 2012]

FDXR Products(7)

mRNA Protein Name
NM_001258012.4 NP_001244941.2 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 3 precursor
NM_001258013.4 NP_001244942.2 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 4
NM_001258014.4 NP_001244943.2 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 5 precursor
NM_001258015.3 NP_001244944.1 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 6 precursor
NM_001258016.3 NP_001244945.2 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 7
NM_004110.6 NP_004101.3 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 2 precursor
NM_024417.5 NP_077728.3 NADPH:adrenodoxin oxidoreductase, mitochondrial isoform 1 precursor

FDXR Protein Structure

NAD_binding_8

NAD_binding_8: NAD(P)-binding Rossmann-like domain (43 - 82)

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  • 400
  • 491 a.a.
Protein Preferred Names Protein Names

NADPH:adrenodoxin oxidoreductase, mitochondrial

AR

Related Diseases

Diseases Alias
Auditory Neuropathy And Optic Atrophy

Auditory Neuropathy-Optic Atrophy Syndrome

ANOA

Neuropathy, Auditory, And Optic Atrophy

Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Febrile Seizures, Familial, 1

FEB1

Convulsions, Familial Febrile, 1

Familial Febrile Seizures 1

Familial Febrile Convulsions 1

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete

P450scc Deficiency

Congenital Adrenal Insufficiency

Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete

46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency

Xy Sex Reversal-Adrenal Failure

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal

AICSR

Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete

Adrenal Insufficiency, Congenital

Congenital Adrenal Hyperplasia

Adrenogenital Syndrome

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

Congenital Lipoid Adrenal Hyperplasia

Lipoid Cah

Lipoid Adrenal Hyperplasia

Adrenal Hyperplasia 1

Cah

Clah

LCAH

Adrenal Hyperplasia I

Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

Congenital Adrenal Hyperplasia Lipoid

Adrenal Hyperplasia, Congenital

Congenital Adrenal Hyperplasia, Lipoid

AH1

Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

Adrenal Hyperplasia Congenital

Hyperplasia, Adrenal, Lipoid, Congenital

Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

Congenital Adrenal Cortical Hyperplasia

Congenital Adrenal Gland Hyperplasia

Congenital Adrenogenital Syndrome

Congenital Hyperadrenocorticism

Congenital Adrenogenitalism

Congenital Female Adrenal Pseudohermaphroditism

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris FDXR VGNC VGNC:40814
Macaca mulatta FDXR VGNC VGNC:72632
Mus musculus FDXR MGD MGI:104724
Bos taurus FDXR VGNC VGNC:28942
Rattus norvegicus FDXR RGD RGD:621648
Felis catus FDXR VGNC VGNC:62222