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Details on Person Defective CYP21A2 does not 21-hydroxylate PROG

Class:IdFailedReaction:5601976
_displayNameDefective CYP21A2 does not 21-hydroxylate PROG
_doReleaseTRUE
_timestamp2014-11-20 02:38:38
authored[InstanceEdit:5601985] Jassal, Bijay, 2014-06-16
catalystActivity[CatalystActivity:9631728] steroid 21-monooxygenase activity of CYP21A2 mutants [endoplasmic reticulum membrane]
compartment[Compartment:12045] endoplasmic reticulum membrane
[Compartment:70101] cytosol
created[InstanceEdit:5601985] Jassal, Bijay, 2014-06-16
disease[Disease:5600600] adrenal gland disease
edited[InstanceEdit:5601985] Jassal, Bijay, 2014-06-16
entityFunctionalStatus[EntityFunctionalStatus:5601964] loss_of_function of CYP21A2 mutants [endoplasmic reticulum membrane]
input[SimpleEntity:193055] P4 [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:29368] O2 [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:5601975] Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations
[LiteratureReference:5601949] Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia
[LiteratureReference:5601963] Nonsense mutation causing steroid 21-hydroxylase deficiency
[LiteratureReference:5601973] Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations
[LiteratureReference:5601955] E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency
modified[InstanceEdit:5602016] Jassal, Bijay, 2014-06-16
[InstanceEdit:5627273] Jassal, Bijay, 2014-10-17
[InstanceEdit:5633252] Matthews, Lisa, 2014-10-31
[InstanceEdit:5634120] Jassal, Bijay, 2014-11-03
[InstanceEdit:5635754] Matthews, Lisa, 2014-11-07
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective CYP21A2 does not 21-hydroxylate PROG
normalReaction
releaseDate2014-12-11
reviewed[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644468] R-HSA-5601976.3
summation[Summation:5601987] Steroid 21-hydroxylase (CYP21A2) specifically catalyses the ...
systematicNameCYP21A2 mutants do not hydroxylate PROG
(hasEvent)[Pathway:5579021] Defective CYP21A2 causes AH3 [Homo sapiens]
(updatedInstance)[_UpdateTracker:9777939] Update Tracker - [FailedReaction:5601976] Defective CYP21A2 does not 21-hydroxylate PROG - v68:[addCatalystActivity]
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