Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

Class:IdFailedReaction:5602885
_displayNameDefective CYP7B1 does not 7-hydroxylate 25OH-CHOL
_doReleaseTRUE
_timestamp2014-11-20 02:44:21
authored[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
catalystActivity[CatalystActivity:9631820] oxysterol 7-alpha-hydroxylase activity of CYP7B1 mutants [endoplasmic reticulum membrane]
compartment[Compartment:70101] cytosol
[Compartment:12045] endoplasmic reticulum membrane
created[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
disease[Disease:5602229] hereditary spastic paraplegia
edited[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
entityFunctionalStatus[EntityFunctionalStatus:5602824] loss_of_function of CYP7B1 mutants [endoplasmic reticulum membrane]
input[SimpleEntity:192148] 25OH-CHOL [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:29368] O2 [cytosol]
isChimericFALSE
literatureReference[LiteratureReference:193828] Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease
[LiteratureReference:5602922] Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration
[LiteratureReference:5602945] Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia
[LiteratureReference:5602916] CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5
[LiteratureReference:5602854] Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
modified[InstanceEdit:5603083] Jassal, Bijay, 2014-06-27
[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:5637451] Jassal, Bijay, 2014-11-10
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective CYP7B1 does not 7-hydroxylate 25OH-CHOL
normalReaction
releaseDate2014-12-11
reviewed[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644695] R-HSA-5602885.3
summation[Summation:5602958] 25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1) normally ...
systematicNameCYP7B1 mutants do not hydroxylate 25OH-CHOL
(hasEvent)[Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778401] Update Tracker - [FailedReaction:5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL - v68:[addCatalystActivity]
[Change default viewing format]
No pathways have been reviewed or authored by Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL (5602885)
Follow Reactome