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FLASH GENE

Symbol

FDXR

contributors: mct - updated : 16-11-2017

HGNC name	ferredoxin reductase
HGNC id	3642

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ANOA auditory neuropathy and optic atrophy
Location	17q25.1      Physical location : 72.858.619 - 72.869.156
Synonym name	adrenodoxin reductase
Synonym symbol(s)	ADXR, ANOA
EC.number	1.18.1.2/ 1.18.1.6

DNA

TYPE	functioning gene
STRUCTURE	10.53 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004110 12 - 1912 NP_004101 - 497 - 2014 24321386 NM_024417 12 - 1900 NP_077728 - 491 - 2014 24321386 NM_001258015 11 - 1780 NP_001244944 - 451 - 2014 24321386 NM_001258014 12 - 1870 NP_001244943 - 483 - 2014 24321386 NM_001258013 13 - 1987 NP_001244942 - 522 - 2014 24321386 NM_001258012 12 - 2023 NP_001244941 - 534 - 2014 24321386

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Endocrine adrenal gland       highly Lymphoid/Immune spleen       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

FlavoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix

basic FUNCTION	electron transport flavoprotein for mitochondrial P450s
	mitochondrial flavoprotein that transfers electrons from NADPH to mitochondrial cytochrome P450 enzymes, mediating the function of an iron-sulfur cluster protein, ferredoxin
	MPZL3 and FDXR increased reactive oxygen species (ROS) to drive epidermal differentiation
	ROS induction by the MPZL3 and FDXR mitochondrial proteins is therefore essential for epidermal differentiation
	necessary for mitochondrial iron homeostasis and proper expression of several master regulators of iron metabolism, including iron regulatory protein 2 (IRP2)
	mitochondrial ferredoxin reductase, the sole human ferredoxin reductase implicated in the biosynthesis of iron-sulfur clusters (ISCs) and in heme formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	FAD

protein	interference with any of the three related genes, FDX1, FDX1L or FDXR, disrupts iron-sulfur cluster assembly and maintenance of normal cytosolic and mitochondrial iron homeostasis
	FDXR is a novel NR5A1 target gene
	abundant FDXR expression in the steroidogenic cells was maintained through NR5A1 binding to the intronic enhancer of the FDXR gene
	in mitochondria, MPZL3 interacted with FDXR, which was itself also found to be essential for differentiation
	mitochondrial cytochrome P450s require adrenodoxin (FDX1) and adrenodoxin reductase (FDXR)
	target of TP53, modulates TP53-dependent apoptosis and is necessary for steroidogenesis and biogenesis of iron-sulfur clusters

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ANOA

related resource

MITOP database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Fdxr-deficient mouse model led to embryonic lethality potentially due to iron overload in developing embryos