|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CYP21
P450c21
steroid 21-monooxygenase
|
|
gptkbp:associatedWith
|
gptkb:non-classic_CAH
gptkb:salt-wasting_CAH
gptkb:simple_virilizing_CAH
congenital adrenal hyperplasia
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Howard et al.
|
|
gptkbp:encodes
|
steroid 21-hydroxylase
|
|
gptkbp:Entrez_Gene_ID
|
1589
ENSG00000231852
|
|
gptkbp:enzymeCommissionNumber
|
1.14.99.10
|
|
gptkbp:expressedIn
|
adrenal cortex
|
|
gptkbp:function
|
catalyzes 21-hydroxylation of steroids
|
|
gptkbp:hasPseudogene
|
CYP21A1P
|
|
gptkbp:HGNC_ID
|
2592
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP21A2 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
10 exons
495 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:6p21.3
gptkb:chromosome_6
|
|
gptkbp:mutationAssociatedWith
|
gptkb:21-hydroxylase_deficiency
|
|
gptkbp:OMIM
|
201910
|
|
gptkbp:orthologInMouse
|
Cyp21a1
|
|
gptkbp:pathway
|
steroid biosynthesis
|
|
gptkbp:product
|
cytochrome P450 21A2
|
|
gptkbp:proteinFamily
|
gptkb:cytochrome_P450
|
|
gptkbp:referenceGenome
|
NM_000500
|
|
gptkbp:UniProtID
|
P08686
|
|
gptkbp:bfsParent
|
gptkb:chromosome_6_(human)
gptkb:Z282_mutation
gptkb:21-hydroxylase_deficiency
|
|
gptkbp:bfsLayer
|
7
|