Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Author/Reviewer Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Author/Reviewer Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
Search ...
Go!
TBXAS1 mutants
Stable Identifier
R-HSA-5603369
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) (Homo sapiens)
Defective TBXAS1 does not isomerise PGH2 to TXA2 (Homo sapiens)
TBXAS1 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
TBXAS1 G482W [endoplasmic reticulum membrane] (Homo sapiens)
TBXAS1 L488P [endoplasmic reticulum membrane] (Homo sapiens)
TBXAS1 L83P [endoplasmic reticulum membrane] (Homo sapiens)
TBXAS1 R413E [endoplasmic reticulum membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
anemia
2355
bone disease
0080001
© 2018
Reactome