FDXR - ferredoxin reductase Gene

Also Known as ADR; ADXR; ANOA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2232

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)

  • 0
  • 100
  • 200
  • 300
  • 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
Others FDXR NCBI