Reactome | Defective CYP27B1 does not hydroxylate CDL

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Defective CYP27B1 does not hydroxylate CDL Show undefined attributes

authored	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
catalystActivity	[CatalystActivity:9631901] calcidiol 1-monooxygenase activity of CYP27B1 mutants [mitochondrial outer membrane]
category	transition
compartment	[Compartment:17906] mitochondrial outer membrane [Compartment:70101] cytosol
created	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
crossReference	[DatabaseIdentifier:12020857] Mondo:0005520
dbId	5602186
disease	[Disease:5602168] rickets
displayName	Defective CYP27B1 does not hydroxylate CDL
edited	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
entityFunctionalStatus	[EntityFunctionalStatus:5602115] loss_of_function of CYP27B1 mutants [mitochondrial outer membrane]
eventOf	[Pathway:R-HSA-5579014] Defective CYP27B1 causes VDDR1A - Homo sapiens
input	[SimpleEntity:R-ALL-209804] 25(OH)D [cytosol] [SimpleEntity:R-ALL-70106] H+ [cytosol] [SimpleEntity:R-ALL-29364] NADPH [cytosol] [SimpleEntity:R-ALL-29368] O2 [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:215593] Regulation of 25-hydroxyvitamin D3-1 alpha-hydroxylase and production of 1 alpha,25-dihydroxyvitamin D3 by human dendritic cells [LiteratureReference:215612] Synthesis of 1,25-dihydroxyvitamin D(3) by human endothelial cells is regulated by inflammatory cytokines: a novel autocrine determinant of vascular cell adhesion [LiteratureReference:5602151] Vitamin D dependent rickets type I [LiteratureReference:5602150] Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets [LiteratureReference:5602126] Genetics of vitamin D 1alpha-hydroxylase deficiency in 17 families
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP27B1 does not hydroxylate CDL
normalReaction	[Reaction:R-HSA-209868] CYP27B1 hydroxylates 25(OH)D to 1,25(OH)2D
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5602186
summation	[Summation:5602183] The second step in vitamin D3 activation requires hydroxylat...
systematicName	CYP27B1 mutants do not hydroxylate CDL
updateTrackers	[UpdateTracker:9778356] Update Tracker - [FailedReaction:5602186] Defective CYP27B1 does not hydroxylate CDL - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778356] Update Tracker - [FailedReaction:5602186] Defective CYP27B1 does not hydroxylate CDL - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5579014] Defective CYP27B1 causes VDDR1A

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