Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
cytochrome P450, family 11, subfamily B, polypeptide 1
|
| gptkbp:associatedWith |
11-beta-hydroxylase deficiency
|
| gptkbp:encodes |
steroid 11-beta-hydroxylase
|
| gptkbp:enzymeCommissionNumber |
EC 1.14.15.4
|
| gptkbp:expressedIn |
adrenal cortex
|
| gptkbp:foundIn |
nuclear genome
|
| gptkbp:function |
catalyzes 11-beta-hydroxylation of steroids
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:hasTranscriptVariant |
NM_000497.4
|
| gptkbp:HGNC_ID |
2592
|
| https://www.w3.org/2000/01/rdf-schema#label |
CYP11B1
|
| gptkbp:involvedIn |
aldosterone biosynthesis
cortisol biosynthesis |
| gptkbp:locatedOnChromosome |
gptkb:8q24.3
|
| gptkbp:memberOf |
gptkb:cytochrome_P450_superfamily
|
| gptkbp:mutationAssociatedWith |
congenital adrenal hyperplasia
|
| gptkbp:OMIM |
124080
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Cyp11b1
|
| gptkbp:UniProtID |
P15538
|
| gptkbp:bfsParent |
gptkb:CYP11_family
gptkb:CYP_family |
| gptkbp:bfsLayer |
5
|