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Gene

NR0B1

nuclear receptor subfamily 0 group B member 1

Summary

Cytogenetic location
Xp21.2
Coordinates
Chromosome X: 30,304,206–30,309,390 (GRCh38)
Exons
2 exons across 5.2 kb
Protein
470 amino acids
Inheritance
X-linked recessive
Also known as
DAX1, AHCH
Previous symbols
AHC, DSS
MANE Select transcript
ENST00000378970.5NM_000475.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Familial Glucocorticoid Deficiency

    • X-linked adrenal hypoplasia congenitaX-linked recessive

      Underdeveloped adrenal glands causing adrenal insufficiency in infancy or childhood, and later hypogonadotropic hypogonadism, caused by NR0B1 variants.

      • 6 GenCC submitters rate it definitive or strong

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 6 GenCC submitters rate it definitive or strong

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How NR0B1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome X, with a bracket where NR0B1 sits. NR0B1 and 7 genes near it on chromosome X, from 29,806,798 to 30,806,797.Chromosome XXp21.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2830 Mb30.2 Mb30.4 Mb30.6 Mb30.8 MbIL1RAPL1: 28,587,123–29,958,600, forward strandIL1RAPL1MAGEB2: 30,215,552–30,220,089, forward strandMAGEB2MAGEB3: 30,230,657–30,237,495, forward strandMAGEB3MAGEB4: 30,242,000–30,244,187, forward strandMAGEB4MAGEB1: 30,243,715–30,252,041, forward strandMAGEB1NR0B1: 30,304,206–30,309,390, reverse strandNR0B1TASL: 30,557,703–30,577,921, reverse strandTASLGK: 30,653,336–30,733,182, forward strandGKDiagram of NR0B1: 2 exons on the reverse strand of chromosome XExon 2: 11 known disease-causing sitesExon 1: 56 known disease-causing sitesExon 2: 30,304,206–30,304,823, 618 basesExon 1: 30,308,196–30,309,390, 1,195 bases215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.8 kb of the gene's 5.2 kb; 1,413 of those bases code for the protein.

How a genome test reads NR0B1

71

positions in NR0B1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 5.2 kb of NR0B1, introns included, not only the 1.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NR0B1 gene: nuclear receptor subfamily 0 group B member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/nr0b1

Vancouver

Dante Labs. NR0B1 gene: nuclear receptor subfamily 0 group B member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nr0b1

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