NR0B1
Sign in to saveAlso known as AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1). The NR0B1 gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136.
Gene data
NR0B1- Name
- nuclear receptor subfamily 0 group B member 1
- Type
- protein-coding
- Chromosome
- X
- Position
- 30,304,206–30,309,394 (−)
- Aliases
- AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
- Ensembl
- ENSG00000169297
- RefSeq RNA
- NM_000475.5
- RefSeq protein
- NP_000466.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
nuclear receptor subfamily 0 group B member 1
- Symbol
- NR0B1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:30,304,206-30,309,394
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
6 sectionsContents
- Function
- Role in disease
- Interactions
- References
- Further reading
- External links
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1). The NR0B1 gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136.
== Function ==
Excerpted from Wikipedia’s “NR0B1” article, available under the CC BY-SA 4.0 licence.