NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1)
Key regulator of adrenal and reproductive development; mutations cause X-linked adrenal hypoplasia congenita.
Gene Information Card
| Symbol | NR0B1 |
|---|---|
| Full Name | Nuclear Receptor Subfamily 0 Group B Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp21.2 |
| NCBI Gene ID | 190 ncbi.nlm.nih.gov/gene/190 |
| Ensembl ID | ENSG00000169297 |
| UniProt ID | P51843 |
| OMIM ID | 300473 |
| HGNC ID | 7960 |
| Aliases | AHX, DAX1, DSS, AHC, HHG, SRXY2 |
Description
NR0B1 (also known as DAX1) encodes a nuclear receptor that acts as a transcriptional repressor. It is critical for the development and function of the adrenal cortex, hypothalamus, pituitary, and gonads. Loss-of-function mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked adrenal hypoplasia congenita (AHC) | Loss-of-function mutations in NR0B1 impair adrenal cortex development, leading to primary adrenal insufficiency. | OMIM #300200; ClinVar |
| Hypogonadotropic hypogonadism (HHG) | NR0B1 mutations disrupt hypothalamic-pituitary-gonadal axis, causing delayed or absent puberty. | OMIM #300200; NCBI Gene |
| 46,XY sex reversal | Duplication of NR0B1 (including DSS locus) can cause male-to-female sex reversal by antagonizing SRY. | OMIM #300018; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 12.5 | High |
| Ovary | 8.2 | Medium |
| Testis | 6.1 | Medium |
| Pituitary gland | 4.3 | Low |
| Hypothalamus | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H295R (adrenal) | 15.0 | Adrenocortical carcinoma cell line |
| LNCaP (prostate) | 2.1 | Prostate carcinoma cell line |
| MCF7 (breast) | 0.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.429_430delAG | Frameshift | Rare | Loss of function; causes AHC |
| p.Trp39Ter | Nonsense | Rare | Premature stop; loss of function; AHC |
| p.Arg267Pro | Missense | Rare | Impaired DNA binding; AHC/HHG |
Mutation functional classification
Loss of Function (LOF)
Most NR0B1 mutations are loss-of-function, leading to AHC and HHG due to impaired transcriptional repression.
Gain of Function (GOF)
Duplications of NR0B1 (gain of function) cause 46,XY sex reversal by over-repressing SRY target genes.
Dominant Negative (DN)
Not reported for NR0B1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • nuclear receptor activity |
| • regulation of transcription by RNA polymerase II | • adrenal gland development |
| • gonad development |
Pathways
• Nuclear receptor signaling
• Adrenal development (SF1/NR5A1 pathway)
Protein Summary
The NR0B1 protein (DAX1) is an atypical nuclear receptor that lacks a conventional DNA-binding domain and functions primarily as a transcriptional repressor. It interacts with NR5A1 (SF1) to regulate genes involved in adrenal and reproductive development. Mutations lead to adrenal insufficiency and hypogonadism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NR0B1 Knockout HEK293 Cell Line | EDJ-KQ4029 | Human | 190 | Details Get a Quote |
| NR0B1 Knockout A-549 Cell Line | EDJ-KQ26371 | Human | 190 | Details Get a Quote |
| NR0B1 Knockout HeLa Cell Line | EDJ-KQ52584 | Human | 190 | Details Get a Quote |
| NR0B1 Knockout HCT 116 Cell Line | EDJ-KQ69544 | Human | 190 | Details Get a Quote |
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