Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
3β-HSD type II
3β-hydroxysteroid dehydrogenase/delta(5)-delta(4) isomerase type II |
| gptkbp:associatedWith |
congenital adrenal hyperplasia
|
| gptkbp:encodes |
3β-hydroxysteroid dehydrogenase type II
|
| gptkbp:Entrez_Gene_ID |
3284
|
| gptkbp:enzymeCommissionNumber |
1.1.1.145
|
| gptkbp:expressedIn |
gptkb:adrenal_gland
gonads |
| gptkbp:fullName |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
| gptkbp:function |
catalyzes conversion of Δ5-3β-hydroxysteroids to Δ4-3-ketosteroids
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
5202
|
| https://www.w3.org/2000/01/rdf-schema#label |
HSD3B2
|
| gptkbp:locatedOnChromosome |
gptkb:1p13.1
|
| gptkbp:mutationAssociatedWith |
3β-hydroxysteroid dehydrogenase deficiency
|
| gptkbp:OMIM |
201810
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Hsd3b2
|
| gptkbp:UniProtID |
P26439
|
| gptkbp:bfsParent |
gptkb:3β-HSD
gptkb:3β-hydroxysteroid_dehydrogenase |
| gptkbp:bfsLayer |
8
|