Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:NR0B1
Nuclear receptor subfamily 0 group B member 1 |
| gptkbp:associatedWith |
gptkb:X-linked_adrenal_hypoplasia_congenita
hypogonadotropic hypogonadism |
| gptkbp:discoveredBy |
Muscatelli et al.
|
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
gptkb:DAX1_protein
|
| gptkbp:Entrez_Gene_ID |
190
ENSG00000169297 |
| gptkbp:expressedIn |
gptkb:pituitary_gland
gptkb:adrenal_gland gptkb:testis hypothalamus |
| gptkbp:function |
acts as a nuclear receptor
involved in sex determination regulates steroidogenesis |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:7970
|
| https://www.w3.org/2000/01/rdf-schema#label |
DAX1
|
| gptkbp:locatedOnChromosome |
gptkb:X_chromosome
Xp21.3 |
| gptkbp:OMIM |
300473
|
| gptkbp:orthologInMouse |
gptkb:Nr0b1
|
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
O00287
|
| gptkbp:bfsParent |
gptkb:NR0B1
gptkb:adrenal_hypoplasia_congenita |
| gptkbp:bfsLayer |
7
|