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Details on Person Defective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol

Class:IdFailedReaction:9035960
_displayNameDefective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol
_doReleaseTRUE
_timestamp2018-01-25 14:31:25
authored[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
catalystActivity[CatalystActivity:9631899] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
disease[Disease:5602095] cerebrotendinous xanthomatosis
edited[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
entityFunctionalStatus[EntityFunctionalStatus:5602127] loss_of_function of CYP27A1 mutants [mitochondrial matrix]
input[SimpleEntity:193720] 5β-CHOL3α,7α,24(s)-triol [mitochondrial matrix]
[SimpleEntity:113529] H+ [mitochondrial matrix]
[SimpleEntity:113600] NADPH [mitochondrial matrix]
[SimpleEntity:113533] O2 [mitochondrial matrix]
isChimericFALSE
literatureReference[LiteratureReference:193375] Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways
[LiteratureReference:192197] Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.
[LiteratureReference:5602119] Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype
[LiteratureReference:5602107] Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)
[LiteratureReference:5602146] Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing
modified[InstanceEdit:5623544] Jassal, Bijay, 2014-09-15
[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 CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol
normalReaction
releaseDate2014-12-11
reviewed[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9035963] R-HSA-9035960.3
summation[Summation:9035961] CYP27A1, a mitochondrial matrix sterol hydroxylase, catalyse...
systematicNameCYP27A1 mutants do not hydroxylate cholestane-triols
(hasEvent)[Pathway:5578996] Defective CYP27A1 causes CTX [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778579] Update Tracker - [FailedReaction:9035960] Defective CYP27A1 does not 27-hydroxylate 5β-CHOL3α,7α,24(s)-triol - v68:[addCatalystActivity]
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