POR - cytochrome p450 oxidoreductase Gene

Homo sapiens

Also known as CPR; CYPOR; P450R

Gene ID: 5447 | Gene type: protein coding

About POR

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,915,155-75,986,855 (from NCBI)

This gene has 24 transcripts (splice variants), 235 orthologues, 5 paralogues and is associated with 5 phenotypes. Ubiquitous expression in liver (RPKM 99.7), adrenal (RPKM 78.6) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by Cytochrome P450 proteins for metabolism of steroid Hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as Aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]

POR Products(7)

mRNA	Protein	Name
NM_001367562.3	NP_001354491.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382655.3	NP_001369584.2	NADPH--cytochrome P450 reductase isoform 2
NM_001382657.2	NP_001369586.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382658.3	NP_001369587.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382659.3	NP_001369588.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382662.3	NP_001369591.2	NADPH--cytochrome P450 reductase isoform 3
NM_001395413.1	NP_001382342.1	NADPH--cytochrome P450 reductase isoform 1

POR Protein Structure

Flavodoxin_1

FAD_binding_1

NAD_binding_1

0
100
200
300
400
500
633 a.a.

Protein Preferred Names

Protein Names

NADPH--cytochrome P450 reductase

NADPH--hemoprotein reductase

Related Diseases

Diseases

Alias

Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency

Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Disordered Steroidogenesis Due To Por Deficiency
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase	Por Deficiency
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital Adrenal Hyperplasia Due To Cytochrome Por Deficiency
Pord	DISPORD
Adrenal Hyperplasia Congenital Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency
Cytochrome P450 Oxidoreductase Deficiency	Steroidogenesis, Disordered, Due To Cytochrome P450 Oxidoreductase Deficiency
Antley-Bixler Syndrome With Disordered Steroidogenesis

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

ABS1	Antley-Bixler Syndrome, With Genital Anomalies And Disordered Steroidogenesis
Antley-Bixler Syndrome With Genital Anomaly And Disorder Of Steroidogenesis	Ambiguous Genitalia-Disordered Steroidogenesis Antley-Bixler Syndrome
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis	Cytochrome P450 Oxidoreductase Deficiency
Por Deficiency	Antley-Bixler Syndrome With Disordered Steroidogenesis

Cytochrome P450 Oxidoreductase Deficiency

Por Deficiency	Pord
Antley-Bixler Syndrome With Disordered Steroidogenesis	Antley-Bixler Syndrome
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis	Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase
Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency	Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis

ABS2	Trapezoidocephaly-Synostosis Syndrome
Multisynostotic Osteodysgenesis With Long Bone Fractures	Antley-Bixler Syndrome, Without Genital Anomalies Or Disordered Steroidogenesis
Osteodysgenesis, Multisynostotic, With Fractures	Osteodysgenesis Multisynostotic With Fractures
Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome	Trapezoidocephaly-Synostosis Syndrome
Antley Bixler Syndrome	Multisynostotic Osteodysgenesis With Long Bone Fractures
Osteodysgenesis, Multisynostotic With Fractures	Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome Phenotype

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

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Synostosis

Humeroradial Synostosis

Humero-Radial Fusion	Humero-Radial Synostosis
Ramer Ladda Syndrome

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome	Bixler Christian Gorlin Syndrome
Bixler-Christian-Gorlin Syndrome	Hypertelorism-Microtia-Facial Clefting Syndrome
Bixler Syndrome	Hypertelorism-Microtia-Clefting Syndrome
Hypertelorism Microtia Facial Clefting Syndrome

Kohler'S Disease

Kohler Disease	Aseptic Necrosis Of The Tarsal Bone
Osteochondrosis Of The Tarsal Bone	Juvenile Osteochondrosis Of Foot
Kohler'S Disease Of The Tarsal Navicular	Kohler'S Osteochondrosis Of The Tarsal Navicular
Navicular Osteochondrosis	Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone
Osteochondritis Of Tarsal/Metatarsal Bone	Avascular Necrosis Of The Tarsal Bone
Larsen-Johansson Syndrome

Cortisone Reductase Deficiency

11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of	Cortrd
Hsd 11b1 Deficiency

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

Gynecomastia

Cloacal Exstrophy

Oeis Complex	Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl	Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex
Cloacal Exstrophy Sequence	Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect
Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects	Omphalocele Exstrophy Imperforate Anus

Dermatopathia Pigmentosa Reticularis

DPR

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Corticosterone Methyloxidase Type I Deficiency

Cmo I Deficiency	Aldosterone Deficiency I
Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase	18-Hydroxylase Deficiency
Hypoaldosteronism, Congenital, Due To Cmo I Deficiency	Corticosterone Methyloxidase Deficiency 1
Corticosterone Methyloxidase Type 1 Deficiency	Hyperreninemic Hypoaldosteronism, Familial, 1
Fhha1a	Steroid 18-Hydroxylase Deficiency
Aldosterone Synthase Deficiency	18 Hydroxylase Deficiency
18 Alpha Hydroxylase Deficiency	Aldosterone Deficiency 1
Aldosterone Deficiency Due To Defect In 18 Hydroxylase	Cmo 1 Deficiency
Corticosterone Methyloxidase 1 Deficiency	CMO-1 DEFICIENCY
Aldosterone Deficiency Due To Defect In 18-Hydroxylase	Corticosterone Methyl Oxidase Type I Deficiency
Corticosterone Methyl Oxidase Type Ii Deficiency

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1	Digitotalar Dysmorphism
DA1A	Da1
Amcd1	Arthrogryposis, Distal, Type 2b4
Distal Arthrogryposis Type 1a	Arthrogryposis, Distal, Type 1
Arthrogryposis Multiplex Congenita Distal Type 1	Arthrogryposis Multiplex Congenita, Distal Type 1
Arthrogryposis Multiplex Congenita, Distal, Type I	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1a	Amc
Arthrogryposis Multiplex Congenita	Arthrogryposis, Distal, 2b4
DA2B4	Arthrogryposis Multiplex Congenita, Distal, Type 1
Arthrogryposis

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome	Reifenstein Syndrome
PAIS	Androgen Insensitivity, Partial, With Or Without Breast Cancer
Familial Incomplete Male Pseudohermaphroditism, Type 1	Androgen Insensitivity Syndrome, Partial
Androgen Resistance Syndrome, Partial	Reifenstein Syndrome, Partial
Partial Androgen Resistance Syndrome	Androgen Insensitivity Partial With Or Without Breast Cancer
Androgen Insensitivity Syndrome Partial	Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Myopathy, Centronuclear, 4

CNM4	Centronuclear Myopathy 4
Congenital Myopathy With Internal Nuclei And Atypical Cores	Centronuclear Myopathy Type 4
Myopathy, Centronuclear, Type 4

Complete Androgen Insensitivity Syndrome

Cais	Complete Androgen Resistance Syndrome
Androgen Insensitivity Syndrome Complete	Androgen Insensitivity, Complete
Androgen-Insensitivity Syndrome	Testicular Feminization

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Glycerol Kinase Deficiency

Hyperglycerolemia	GKD
Gk Deficiency	Gk1 Deficiency
Deficiency Of Glycerol Kinase	Isolated Glycerol Kinase Deficiency
Glycerol Kinase Deficiency, Adult Form	Glycerol Kinase Deficiency, Juvenile Form
Deficiency, Glycerol Kinase

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome	Pmds
Persistent Oviduct Syndrome	Persistent Muellerian Duct Syndrome
Female Genital Ducts In Otherwise Normal Male	Hernia Uteri Inguinale
Persistent Mullerian Duct Syndrome, Types 1 And 2	Persistent Mullerian Derivatives

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10880	POR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	POR	VGNC	VGNC:33169
Felis catus	POR	VGNC	VGNC:68961
Canis familiaris	POR	VGNC	VGNC:44820
Rattus norvegicus	POR	RGD	RGD:68335
Mus musculus	POR	MGD	MGI:97744
Macaca mulatta	POR	VGNC	VGNC:81743
Macaca fascicularis	POR	NCBI
Others	POR	NCBI