|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CYP21
P450c21
steroid 21-monooxygenase
|
|
gptkbp:associatedWith
|
adrenal insufficiency
virilization
congenital adrenal hyperplasia
precocious puberty
ambiguous genitalia
salt loss
|
|
gptkbp:biologicalProcess
|
hydroxylation of progesterone and 17-hydroxyprogesterone
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Miller WL
|
|
gptkbp:encodes
|
steroid 21-hydroxylase
|
|
gptkbp:Entrez_Gene_ID
|
1589
|
|
gptkbp:enzymeCommissionNumber
|
1.14.99.10
|
|
gptkbp:expressedIn
|
adrenal cortex
|
|
gptkbp:firstDescribed
|
1985
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
catalyzes 21-hydroxylation of steroids
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
CYP21A1P
|
|
gptkbp:hasPseudogene
|
CYP21A1P
|
|
gptkbp:HGNC_ID
|
2592
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CYP21A2
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:involvedIn
|
aldosterone biosynthesis
cortisol biosynthesis
|
|
gptkbp:length
|
495 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:6p21.3
6
|
|
gptkbp:memberOf
|
gptkb:cytochrome_P450_superfamily
|
|
gptkbp:mutationAssociatedWith
|
gptkb:21-hydroxylase_deficiency
nonsense
deletion
missense
gene conversion
|
|
gptkbp:OMIM
|
201910
|
|
gptkbp:orthologInMouse
|
Cyp21a1
|
|
gptkbp:proteinFamily
|
gptkb:CYP21_family
|
|
gptkbp:referenceGenome
|
NM_000500
|
|
gptkbp:referenceSequenceProtein
|
NP_000491
|
|
gptkbp:relatedTo
|
salt-wasting form of congenital adrenal hyperplasia
non-classic congenital adrenal hyperplasia
simple virilizing form of congenital adrenal hyperplasia
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
|
|
gptkbp:UniProtID
|
P08686
|
|
gptkbp:bfsParent
|
gptkb:CYP21_family
gptkb:CYP_family
|
|
gptkbp:bfsLayer
|
5
|