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Details on Person Defective CYP27B1 does not hydroxylate CDL

Class:IdFailedReaction:5602186
_displayNameDefective CYP27B1 does not hydroxylate CDL
_doReleaseTRUE
_timestamp2014-11-20 02:43:55
authored[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
catalystActivity[CatalystActivity:9631901] calcidiol 1-monooxygenase activity of CYP27B1 mutants [mitochondrial outer membrane]
compartment[Compartment:17906] mitochondrial outer membrane
[Compartment:70101] cytosol
created[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
disease[Disease:5602168] rickets
edited[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
entityFunctionalStatus[EntityFunctionalStatus:5602115] loss_of_function of CYP27B1 mutants [mitochondrial outer membrane]
input[SimpleEntity:209804] 25(OH)D [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:29368] O2 [cytosol]
isChimericFALSE
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
modified[InstanceEdit:5602259] Jassal, Bijay, 2014-06-20
[InstanceEdit:5602279] Jassal, Bijay, 2014-06-23
[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 CYP27B1 does not hydroxylate CDL
normalReaction
releaseDate2014-12-11
reviewed[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644678] R-HSA-5602186.3
summation[Summation:5602183] The second step in vitamin D3 activation requires hydroxylat...
systematicNameCYP27B1 mutants do not hydroxylate CDL
(hasEvent)[Pathway:5579014] Defective CYP27B1 causes VDDR1A [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778356] Update Tracker - [FailedReaction:5602186] Defective CYP27B1 does not hydroxylate CDL - v68:[addCatalystActivity]
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