NR0B1

Chr Xp21.2

nuclear receptor subfamily 0 group B member 1

Aliases:: DAX1, AHCH
MANE:: ENST00000378970.5

OMIM: 300473 ↗NCBI: 190 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

NR0B1 · P51843

v62025-08-01

Predicted Aligned Error matrix for NR0B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.5/ 100

Low

470 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)14%
Low(50–70)13%
Very low(< 50)49%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital adrenal hypoplasia
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Differences in sex development
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypogonadotropic hypogonadism
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypogonadotropic hypogonadism (GMS)
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

Cytomegalic congenital adrenal hypoplasia
0.80
X-linked adrenal hypoplasia congenita
0.78
46,XY complete gonadal dysgenesis
0.75
46,XX testicular disorder of sex development
0.53
46,XY partial gonadal dysgenesis
0.52
neurodegenerative disease
0.48
alternating hemiplegia of childhood
0.39
hereditary disease
0.19
hepatocellular carcinoma
0.09
prostate carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nuclear receptor subfamily 0 group B member 1

Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis (PubMed:7990953, PubMed:8675564). May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity)