NR0B1

Chr X

nuclear receptor subfamily 0 group B member 1

Also known as: AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG

NCBI Gene: 190 ENSG00000169297 UniProt: P51843

This gene encodes a nuclear receptor corepressor that inhibits transcriptional activity of other nuclear receptors and is essential for development of the hypothalamic-pituitary-adrenal-gonadal axis. Mutations cause X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism, as well as 46,XY sex reversal with dosage sensitivity. The gene shows X-linked recessive inheritance and is highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAdrenal hypoplasia, congenital

UniProt46,XY sex reversal 2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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