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 hypogona... See more...

Aliases for NR0B1 Gene

Aliases for NR0B1 Gene

  • Nuclear Receptor Subfamily 0 Group B Member 1 2 3 4 5
  • DSS-AHC Critical Region On The X Chromosome Protein 1 3 4
  • Nuclear Receptor DAX-1 3 4
  • DAX1 3 4
  • AHC 3 4
  • Truncated Nuclear Receptor Subfamily 0 Group B Member 1 3
  • Nuclear Receptor Subfamily 0, Group B, Member 1 2
  • Dosage-Sensitive Sex Reversal 2
  • Nuclear Hormone Receptor 3
  • DAX-1 3
  • NROB1 3
  • SRXY2 3
  • AHCH 3
  • AHX 3
  • GTD 3
  • HHG 3
  • DSS 3

External Ids for NR0B1 Gene

Previous HGNC Symbols for NR0B1 Gene

  • AHC
  • DSS

Previous GeneCards Identifiers for NR0B1 Gene

  • GC0XM028821
  • GC0XM029006
  • GC0XM029524
  • GC0XM029683
  • GC0XM030082
  • GC0XM030232
  • GC0XM028059
  • GC0XM030322

Summaries for NR0B1 Gene

Entrez Gene Summary for NR0B1 Gene

  • 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]

GeneCards Summary for NR0B1 Gene

NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1) is a Protein Coding gene. Diseases associated with NR0B1 include Adrenal Hypoplasia, Congenital and 46,Xy Sex Reversal 2. Among its related pathways are Gene Expression and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR0B2.

UniProtKB/Swiss-Prot Summary for NR0B1 Gene

  • Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).

Gene Wiki entry for NR0B1 Gene

Additional gene information for NR0B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR0B1 Gene

Genomics for NR0B1 Gene

GeneHancer (GH) Regulatory Elements for NR0B1 Gene

Promoters and enhancers for NR0B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ030308 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +1.7 1689 4.2 PHF8 CTCF MXI1 SIN3A POLR2A NR3C1 JUND RAD21 RNF2 SUZ12 NR0B1 PLCE1P1
GH0XJ030282 Enhancer 1.2 FANTOM5 Ensembl ENCODE 13.1 +25.8 25789 2.4 TCF12 JUND FOS AFF1 RFX1 CUX1 MYC EP300 JUN TAF9B HSALNG0137170 RF00994-1168 NR0B1 GK CXorf21
GH0XJ030361 Enhancer 0.2 Ensembl 12.1 -52.5 -52510 1.4 NR0B1 HSALNG0137182 piR-61580-678
GH0XJ030313 Enhancer 0.9 Ensembl ENCODE 0.7 -3.9 -3911 1 EP300 TCF7 FOXA1 TBX3 FOXA2 USF1 ZNF205 FOXP1 SMAD4 FOSL2 RF01061-189 NR0B1
GH0XJ030302 Enhancer 0.6 Ensembl 0.4 +6.7 6711 2.2 REST USF1 CTCF MAX MYC BHLHE40 POLR2A NFIB USF2 TOE1 NR0B1 PLCE1P1 HSALNG0137170
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR0B1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR0B1

Top Transcription factor binding sites by QIAGEN in the NR0B1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Myc
  • Max1
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for NR0B1 Gene

Genomic Locations for NR0B1 Gene
chrX:30,304,206-30,309,390
(GRCh38/hg38)
Size:
5,185 bases
Orientation:
Minus strand
chrX:30,322,323-30,327,715
(GRCh37/hg19)
Size:
5,393 bases
Orientation:
Minus strand

Genomic View for NR0B1 Gene

Genes around NR0B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR0B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR0B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR0B1 Gene

Proteins for NR0B1 Gene

  • Protein details for NR0B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51843-NR0B1_HUMAN
    Recommended name:
    Nuclear receptor subfamily 0 group B member 1
    Protein Accession:
    P51843
    Secondary Accessions:
    • Q96F69

    Protein attributes for NR0B1 Gene

    Size:
    470 amino acids
    Molecular mass:
    51718 Da
    Quaternary structure:
    • Homodimer. Interacts with NR5A1, NR5A2, NR0B2 and with COPS2. Interacts with ESRRB; represses ESRRB activity at the GATA6 promoter (By similarity).
    Miscellaneous:
    • [Isoform 2]: More abundant than isoform 1 in all tissues tested except testis where they are nearly equal.

    Three dimensional structures from OCA and Proteopedia for NR0B1 Gene

    Alternative splice isoforms for NR0B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR0B1 Gene

Post-translational modifications for NR0B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR0B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NR0B1 Gene

Domains & Families for NR0B1 Gene

Gene Families for NR0B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Nuclear receptors
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR0B1 Gene

Blocks:
  • Steroid hormone receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NR0B1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 0, group B, member 1 (F1D8P4_HUMAN)
  • Nuclear receptor DAX-1 (NR0B1_HUMAN)
  • DAX-1 protein (Q16392_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51843

UniProtKB/Swiss-Prot:

NR0B1_HUMAN :
  • Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.
  • Belongs to the nuclear hormone receptor family. NR0 subfamily.
Domain:
  • Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.
Family:
  • Belongs to the nuclear hormone receptor family. NR0 subfamily.
genes like me logo Genes that share domains with NR0B1: view

Function for NR0B1 Gene

Molecular function for NR0B1 Gene

UniProtKB/Swiss-Prot Function:
Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).
GENATLAS Biochemistry:
orphan nuclear (steroid/thyroid/retinoid) receptor,subfamily 0,member 1,dosage-sensitive sex reversal,adrenal hypoplasia congenita (DSS(SRVX)-AHC) critical region on the X chromosome,likely involved in testis and development,essential for the integrity of testicular germinal epithelium,not required for ovarian development,also expressed in the hypothalamus and pituitary,repressing STAR expression and suppressing steroidogenesis by binding to the STAR promoter,antagonizing testis determining factor SRY,also antagonizing synergy between FTZF1 and WT1,regulated by WT1 for gonadal differentiation,transcriptional suppressor of NR5A1

Phenotypes From GWAS Catalog for NR0B1 Gene

Gene Ontology (GO) - Molecular Function for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IDA 7990953
GO:0003707 steroid hormone receptor activity IEA --
GO:0003714 transcription corepressor activity IMP 19651776
GO:0003723 RNA binding IDA 10848616
genes like me logo Genes that share ontologies with NR0B1: view
genes like me logo Genes that share phenotypes with NR0B1: view

Human Phenotype Ontology for NR0B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR0B1 Gene

MGI Knock Outs for NR0B1:

Animal Model Products

CRISPR Products

miRNA for NR0B1 Gene

miRTarBase miRNAs that target NR0B1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR0B1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NR0B1 Gene

Localization for NR0B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR0B1 Gene

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR0B1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
endosome 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
  • Centriolar satellite (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IDA 7990953
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IBA,IDA 16709599
GO:0005815 microtubule organizing center IDA --
genes like me logo Genes that share ontologies with NR0B1: view

Pathways & Interactions for NR0B1 Gene

genes like me logo Genes that share pathways with NR0B1: view

Pathways by source for NR0B1 Gene

1 KEGG pathway for NR0B1 Gene
1 Qiagen pathway for NR0B1 Gene
  • Estrogen Pathway

SIGNOR curated interactions for NR0B1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NR0B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006694 steroid biosynthetic process IDA 9384387
GO:0007283 spermatogenesis IBA,IEA 21873635
genes like me logo Genes that share ontologies with NR0B1: view

Drugs & Compounds for NR0B1 Gene

(12) Drugs for NR0B1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist, Target, stimulator Anti-inflammatory glucocorticoid 2756
Tretinoin Approved, Investigational Nutra Full agonist, Agonist, Antagonist, Target 260

(4) Additional Compounds for NR0B1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR0B1: view

Transcripts for NR0B1 Gene

mRNA/cDNA for NR0B1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NR0B1

Alternative Splicing Database (ASD) splice patterns (SP) for NR0B1 Gene

No ASD Table

Relevant External Links for NR0B1 Gene

GeneLoc Exon Structure for
NR0B1

Expression for NR0B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR0B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR0B1 Gene

This gene is overexpressed in Adrenal Gland (x26.3) and Testis (x12.7).

Protein differential expression in normal tissues from HIPED for NR0B1 Gene

This gene is overexpressed in Lung (49.9) and Testis (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NR0B1 Gene



Protein tissue co-expression partners for NR0B1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR0B1

SOURCE GeneReport for Unigene cluster for NR0B1 Gene:

Hs.268490

Evidence on tissue expression from TISSUES for NR0B1 Gene

  • Lung(4.3)
  • Adrenal gland(3.2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR0B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • pituitary gland
Thorax:
  • breast
  • clavicle
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with NR0B1: view

No data available for mRNA Expression by UniProt/SwissProt for NR0B1 Gene

Orthologs for NR0B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NR0B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR0B1 31 30
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NR0B1 31 30
  • 83.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NR0B1 31 30
  • 80.99 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nr0b1 17 31 30
  • 74.75 (n)
rat
(Rattus norvegicus)
Mammalia Nr0b1 30
  • 74.33 (n)
oppossum
(Monodelphis domestica)
Mammalia NR0B1 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR0B1 31
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR0B1 31 30
  • 73.41 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR0B1 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487043 30
  • 61.58 (n)
zebrafish
(Danio rerio)
Actinopterygii nr0b1 31 30
  • 61.38 (n)
OneToOne
Species where no ortholog for NR0B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NR0B1 Gene

ENSEMBL:
Gene Tree for NR0B1 (if available)
TreeFam:
Gene Tree for NR0B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR0B1: view image

Paralogs for NR0B1 Gene

Paralogs for NR0B1 Gene

(1) SIMAP similar genes for NR0B1 Gene using alignment to 3 proteins:

  • NR0B1_HUMAN
  • A6NNU8_HUMAN
  • F1D8P4_HUMAN
genes like me logo Genes that share paralogs with NR0B1: view

Variants for NR0B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR0B1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
444076 Pathogenic: Congenital adrenal hypoplasia, X-linked 30,307,935(-) AAGAAATGTGTAGAGA
623314 Pathogenic: Congenital adrenal hypoplasia, X-linked 30,308,501(-) CGCACCA/C INFRAME_DELETION
703336 Benign: not provided 30,308,335(-) C/T SYNONYMOUS_VARIANT
703375 Benign: not provided 30,308,776(-) C/T SYNONYMOUS_VARIANT
705919 Benign: not provided 30,308,494(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NR0B1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NR0B1 Gene

Variant ID Type Subtype PubMed ID
dgv505n21 CNV gain 19592680

Variation tolerance for NR0B1 Gene

Residual Variation Intolerance Score: 36.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR0B1 Gene

Human Gene Mutation Database (HGMD)
NR0B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR0B1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR0B1 Gene

Disorders for NR0B1 Gene

MalaCards: The human disease database

(40) MalaCards diseases for NR0B1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NR0B1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NR0B1_HUMAN
  • Adrenal hypoplasia, congenital (AHC) [MIM:300200]: A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern. {ECO:0000269 PubMed:10323730, ECO:0000269 PubMed:10341858, ECO:0000269 PubMed:10675358, ECO:0000269 PubMed:10848616, ECO:0000269 PubMed:11113848, ECO:0000269 PubMed:11443184, ECO:0000269 PubMed:11748852, ECO:0000269 PubMed:11788621, ECO:0000269 PubMed:12629128, ECO:0000269 PubMed:15800903, ECO:0000269 PubMed:7990958, ECO:0000269 PubMed:9003500, ECO:0000269 PubMed:9063431, ECO:0000269 PubMed:9360549, ECO:0000269 PubMed:9415399, ECO:0000269 PubMed:9529340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 46,XY sex reversal 2 (SRXY2) [MIM:300018]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. {ECO:0000269 PubMed:9486644}. Note=The disease is caused by mutations affecting the gene represented in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation.

Additional Disease Information for NR0B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NR0B1: view

No data available for Genatlas for NR0B1 Gene

Publications for NR0B1 Gene

  1. Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. (PMID: 16709599) Iyer AK … McCabe ER (Molecular endocrinology (Baltimore, Md.) 2006) 3 4 23 54
  2. NR0B1A: an alternatively spliced form of NR0B1. (PMID: 15589120) Ho J … McCabe ER (Molecular genetics and metabolism 2004) 3 4 23 54
  3. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. (PMID: 12629128) Brown P … Anderson RA (The Journal of clinical endocrinology and metabolism 2003) 3 4 23 54
  4. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. (PMID: 11443184) Achermann JC … Jameson JL (The Journal of clinical endocrinology and metabolism 2001) 3 4 23 54
  5. Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. (PMID: 11748852) Zhang YH … Phelan JK (Human mutation 2001) 3 4 23 54

Products for NR0B1 Gene

Sources for NR0B1 Gene