Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
Schema
>
FailedReaction
>
Entries
Defective ABCA12 does not transport lipids from cytosol to extracellular region
Show undefined attributes
Go to Details
authored
[InstanceEdit:5682331] Jassal, Bijay, 2015-03-06
catalystActivity
[CatalystActivity:9631773] lipid transporter activity of ABCA12 mutants [plasma membrane]
category
transition
compartment
[Compartment:70101] cytosol
[Compartment:876] plasma membrane
created
[InstanceEdit:5682331] Jassal, Bijay, 2015-03-06
dbId
5682311
disease
[Disease:5602266] autosomal recessive congenital ichthyosis
displayName
Defective ABCA12 does not transport lipids from cytosol to extracellular region
edited
[InstanceEdit:5682331] Jassal, Bijay, 2015-03-06
entityFunctionalStatus
[EntityFunctionalStatus:5682318] loss_of_function of ABCA12 mutants [plasma membrane]
eventOf
[Pathway:R-HSA-5682294] Defective ABCA12 causes ARCI4B - Homo sapiens
input
[SimpleEntity:R-ALL-113592] ATP [cytosol]
[SimpleEntity:R-ALL-29356] H2O [cytosol]
[SimpleEntity:R-ALL-5682283] lipids [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:5682304] Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
[LiteratureReference:5682333] ABCA12 is the major harlequin ichthyosis gene
[LiteratureReference:5682295] Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective ABCA12 does not transport lipids from cytosol to extracellular region
normalReaction
[Reaction:R-HSA-5682285] ABCA12 transports lipids from cytosol to extracellular region
releaseDate
2015-12-15
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:6797619] Shukla, Suneet, 2015-09-15
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-5682311
summation
[Summation:5682335] ATP-binding cassette sub-family A member 12 (ABCA12) is thou...
Referrals
(hasEvent)
[Pathway:R-HSA-5682294] Defective ABCA12 causes ARCI4B
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text