NR0B1 - nuclear receptor subfamily 0 group B member 1 Gene

Also Known as AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 190

About NR0B1

Cytogenetic location: Xp21.2 Genomic coordinates (GRCh38): X:30,304,206-30,309,390 (from NCBI)

This gene has 2 transcripts (splice variants), 231 orthologues, 1 paralogue and is associated with 7 phenotypes. Biased expression in testis (RPKM 9.2), adrenal (RPKM 6.6) and 1 other tissue.

Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

NR0B1 Products (1)

mRNA	Protein	Name
NM_000475.5	NP_000466.2	nuclear receptor subfamily 0 group B member 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables AF-2 domain binding	IPI IPI: Inferred from physical interaction	17686645	GOA
enables DNA hairpin binding	IDA IDA: Inferred from direct assay	9384387	GOA
enables RNA binding	IDA IDA: Inferred from direct assay	10848616	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	19651776	GOA
enables nuclear receptor binding	IPI IPI: Inferred from physical interaction	11875111	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12771131	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	15100213	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	16709599	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	19651776	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in adrenal gland development	IMP IMP: Inferred from mutant phenotype	7990953	GOA
involved in gonad development	IMP IMP: Inferred from mutant phenotype	7990953	GOA
involved in male gonad development	IMP IMP: Inferred from mutant phenotype	7990958	GOA
involved in negative regulation of DNA-binding transcription factor activity	IMP IMP: Inferred from mutant phenotype	19651776	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	7990953	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19651776	GOA
involved in negative regulation of intracellular steroid hormone receptor signaling pathway	IDA IDA: Inferred from direct assay	11875111	GOA
acts upstream of negative regulation of steroid biosynthetic process	IDA IDA: Inferred from direct assay	9384387	GOA
involved in protein localization	IDA IDA: Inferred from direct assay	11875111	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	16709599	GOA
located in membrane	IDA IDA: Inferred from direct assay	10848616	GOA
located in nucleus	IDA IDA: Inferred from direct assay	7990953	GOA
located in ribosome	IDA IDA: Inferred from direct assay	10848616	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NR0B1 Protein Structure

NR_Repeat

Hormone_recep

0
100
200
300
400
470 a.a.

Protein Preferred Names	Protein Names
nuclear receptor subfamily 0 group B member 1	DSS-AHC critical region on the X chromosome protein 1

NR0B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508-3	Validated Y2H	32296183
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508-3	Y2H Prey Pooling	32296183
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508-3	Y2H Array	32296183
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508	Y2H Prey Pooling	25416956
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508	Validated Y2H	25416956
Intra	NR0B1	P51843	ESRRG	Homo sapiens	P62508	Y2H Array	25416956
Intra	NR0B1	P51843	EEF2KMT	Homo sapiens	Q96G04	Validated Y2H	32296183
Intra	NR0B1	P51843	RORA	Homo sapiens	P35398	Y2H Array	16713569
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Validated Y2H	32296183
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Array	25416956
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Array	25910212
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Bait-Prey Pool	25910212
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Array	32296183
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Validated Y2H	25910212
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Prey Pooling	25416956
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Validated Y2H	25416956
Intra	NR0B1	P51843	NR5A1	Homo sapiens	Q13285	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

NR0B1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81460	NR0B1/DAX1 Antibody (YA1205)	IHC-P	Human
HY-P81460A	NR0B1/DAX1 Antibody (YA1205)(PBS only)	IHC-P	Human
HY-P82596	NR0B1/DAX1 Antibody (YA2341)	WB, IHC-P, ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Adrenal Hypoplasia, Congenital	X-Linked Adrenal Hypoplasia Congenita Congenital Adrenal Hypoplasia AHC Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism Adrenal Hypoplasia Congenita X-Linked Ahc Ahch Ahx Ahc With Hhg Cytomegalic Adrenocortical Hypoplasia Ahc With Isolated Gonadotropin Deficiency X-Linked Congenital Adrenal Hypoplasia Congenital Adrenal Hypoplasia, X-Linked Addison Disease, X-Linked Primary Adrenal Hypoplasia Adrenal Hypoplasia Congenital, X-Linked X-Linked Addison Disease X-Linked Adrenal Hypoplasia Congenital Congenital Hypoplasia Of Adrenal Gland Congenital Adrenal Gland Hypoplasia Congenital Small Adrenal Gland Adrenal Hypoplasia Cah - [Congenital Adrenal Hypoplasia]
46,Xy Sex Reversal 2	Dosage-Sensitive Sex Reversal Dss SRXY2 46,Xy Sex Reversal, Dax1-Related 46xy Sex Reversal 2, Dosage-Sensitive 46,Xy Sex Reversal Dax1-Related
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
Hypogonadism
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
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
Adrenal Cortical Hypofunction	Adrenal Cortical Insufficiency Corticoadrenal Insufficiency
Hypoadrenocorticism, Familial	Addison Disease Primary Adrenocortical Insufficiency Addison'S Disease Adrenal Gland Hypofunction Adrenal Hypoplasia Adrenal Aplasia Addison Disease, Chronic Adrenal Insufficiency Primary Hypoadrenalism Hypoadrenocorticism Familial Autoimmune Addison Disease Autoimmune Adrenalitis Classic Addison Disease Primary Addison Disease Addisons Disease Addison Disease, Susceptibility To Autoimmune Primary Adrenal Insufficiency Addison'S Disease Due To Autoimmunity
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
46,Xy Partial Gonadal Dysgenesis	46,Xy Pgd 46,Xy Partial Testicular Dysgenesis
46,Xx Sex Reversal 1	46,Xx Testicular Disorder Of Sex Development 46,Xx Gonadal Dysgenesis SRXX1 46,Xx Gonadal Dysgenesis, Complete, Sry-Positive 46,Xx Testicular Dsd Xx Male Syndrome 46,Xx Complete Gonadal Dysgenesis 46,Xx Pure Gonadal Dysgenesis Follicular Stimulating Hormone-Resistant Ovaries Hypergonadotropic Ovarian Dysgenesis Ovotesticular Disorder Of Sex Development 46,Xx Sex Reversal, Sry-Positive Xx Male, Sry-Positive 46xx Sex Reversal 1 46, Xx Gonadal Sex Reversal Xx Sex Reversal 46,Xx Ovarian Dysgenesis Fsh-Ro Xx Female Gonadal Dysgenesis Xx-Gd 46,Xx Ovotesticular Disorder Of Sex Development 46,Xx Ovotesticular Dsd De La Chapelle Syndrome Xx, Male Syndrome 46,Xx Gonadal Dysgenesis Complete Sry-Positive 46,Xx Sex Reversal Sry-Positive 46,Xx True Hermaphroditism Sry-Positive Ovotesticular Dsd Xx Male Sry-Positive Ovotesticular Disorders Of Sex Development 46, Xx Testicular Disorders Of Sex Development Resistant Ovary Syndrome Dysgenetic Ovaries Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries] True Hermaphroditism Ovotestis True Hermaphrodite
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Adrenal Cortex Disease	Adrenal Cortex Diseases
Chromosome Xp21 Deletion Syndrome	Complex Glycerol Kinase Deficiency Xp21 Microdeletion Syndrome Monosomy Xp21 Xp21 Deletion Syndrome Complex Gkd Del Xp21 Contiguous Gene Deletion Syndrome Glycerol Kinase Deficiency - Contiguous Gene Syndrome
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
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 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
46,Xx Sex Reversal	46,Xx Testicular Disorder Of Sex Development 46,Xx Testicular Dsd De La Chapelle Syndrome Srxx Xx, Male Syndrome 46, Xx Testicular Disorders Of Sex Development
Adrenal Cortical Carcinoma	Adrenocortical Carcinoma Adrenal Cortex Carcinoma Carcinoma Of The Adrenal Cortex Acc Adrenocortical Cancer Carcinoma Adrenocortical
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
Mixed Gonadal Dysgenesis	Gonadal Dysgenesis Mixed Gonadal Dysgenesis, Mixed
Adrenal Gland Disease	Adrenal Gland Diseases Adrenal Gland Disorders
45,X/46,Xy Mixed Gonadal Dysgenesis	45,X/46,Xy Mgd 45,X0/46,Xy Mgd 45,X0/46,Xy Mixed Gonadal Dysgenesis
Familial Glucocorticoid Deficiency	Glucocorticoid Deficiency Acth Resistance Adrenal Unresponsiveness To Acth Hereditary Unresponsiveness To Adrenocorticotropic Hormone Isolated Glucocorticoid Deficiency Glucocorticoid Deficiency, Familial Glucocorticoid Deficiency 1
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
Achalasia-Addisonianism-Alacrima Syndrome	Allgrove Syndrome Triple-A Syndrome Achalasia-Addisonianism-Alacrimia Syndrome Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder Triple A Syndrome Aaa Syndrome AAAS Glucocorticoid Deficiency With Achalasia Glucocorticoid Deficiency And Achalasia Addisonian-Achalasia Syndrome Hypoadrenalism With Achalasia Alacrima-Achalasia-Addisonianism Aaa Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima Achalasia Addisonianism Alacrimia Syndrome Achalasia Alacrima Syndrome Addisonian Achalasia Syndrome Achalasia-Addisonian Syndrome Achalasia-Alacrima Syndrome 2a Syndrome 3a Syndrome 4a Syndrome Adrenal Insufficiency-Achalasia-Alacrima Syndrome Double A Syndrome Quaternary A Syndrome Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima Allgrove'S Syndrome Adrenal Gland Hypofunction Adrenal Cortical Hypofunction
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism
Central Precocious Puberty	Cpp Gonadotropin-Dependant Precocious Puberty Gonadotropin-Dependent Precocious Puberty Precocious Puberty, Central
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Adrenal Carcinoma	Adrenal Cancer Adrenal Gland Cancer Malignant Neoplasm Of Adrenal Gland Adrenal Gland Neoplasms Carcinoma Of The Adrenal Gland Adrenal Neoplasm Malignant Adrenal Tumor Neoplasm Of Adrenal Gland Tumor Of The Adrenal Gland Adrenal Gland Neoplasm Adrenocortical Carcinoma Adrenal Gland Malignancy Suprarenal Cancer Malignant Neoplasm Of Suprarenal Gland Malignant Neoplasm Of Adrenal Gland, Unspecified Malignant Tumour Of Adrenal Gland Suprarenal Gland Cancer Primary Malignant Neoplasm Of Adrenal Gland
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Ovarian Gonadoblastoma
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
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
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
Hermaphroditism
Ovarian Dysgenesis 2	Premature Ovarian Failure 4 ODG2 Ovarian Dysgenesis, Hypergonadotropic, X-Linked Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis X-Linked Hypergonadotropic Ovarian Dysgenesis POF4 Dysgenesis, Ovarian, Type 2
Gonadoblastoma	GBY
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
Androgen Insensitivity Syndrome	Androgen Resistance Syndrome AIS Testicular Feminization Syndrome Androgen Receptor Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Ar Deficiency Testicular Feminization Tfm Androgen Insensitivity Androgen-Insensitivity Syndrome Goldberg-Maxwell Syndrome Complete Androgen Insensitivity Syndrome Cais Feminisation - Testicular Goldberg - Maxwell Syndrome Androgen Insensitivity Syndrome, Complete Morris Syndrome Ary AR Insensitivity Syndrome, Androgen Androgen Insensitivity Nos
Frasier Syndrome	FS
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism Undescended Testicle Undescended Testis Cryptorchism Undescended Testicles CRYPTO Impaired Testicular Descent Cryptosporidiosis Retained Testis Unilateral Cryptorchidism Unilateral Undescended Testis Nondescent Unilateral Testicle Unilateral Cryptorchism Ectopic Testis, Unilateral Bilateral Cryptorchidism Bilateral Cryptorchism Bilateral Nondescent Testicle Bilateral Undescended Testes Bilateral Ectopic Testes
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
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	17-Ksr Deficiency Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency Pseudohermaphroditism, Male, With Gynecomastia 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency Testosterone 17-Beta-Dehydrogenase Deficiency 17-Ketosteroid Reductase Deficiency Of Testis 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Ketoreductase Deficiency 17-Ketosteroidreductase Deficiency 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency Male Pseudohermaphroditism With Gynecomastia 17 Alpha Ksr Deficiency 17 Alpha Ketosteroid Reductase Deficiency Of Testis 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency Male Pseudoherma-Phroditism With Gynecomastia Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency Male Pseudohermaphrodism With Gynecomastia MPH 17-Hydroxysteroid Dehydrogenase Deficiency
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-122054	BPK-29		99.4%	Unkown
HY-122054A	BPK-29 hydrochloride	Inhibitor	99.19%	Unkown
HY-RS09525	NR0B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21003	Nr0b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27520	Nr0b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	NR0B1	VGNC	VGNC:32226
Rattus norvegicus	NR0B1	RGD	RGD:62028
Macaca mulatta	NR0B1	VGNC	VGNC:103838
Canis familiaris	NR0B1	VGNC	VGNC:43938
Mus musculus	NR0B1	MGD	MGI:1352460
Felis catus	NR0B1	VGNC	VGNC:68540
Others	NR0B1	NCBI