Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
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
Curator Guide
Release Documentation
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
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
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
Curator Guide
Release Documentation
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
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
Stable Identifier
R-HSA-5619043
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) (Homo sapiens)
General
SBML
|
BioPAX
Level 2
Level 3
|
PDF
SVG
|
PNG
Low
Medium
High
|
PPTX
|
SBGN
Click the image above or
here
to open this pathway in the Pathway Browser
Members of the SLC2A family encode glucose transporter (GLUT) proteins that mediate the facilitated diffusion of glucose between the extracellular space and the cytosol. While the monomeric protein can form a channel and transport glucose, kinetic studies suggest that the functional form of the protein is a homotetramer. SLC2A1 (GLUT1) is expressed by many cell types, notably endothelial cells, red blood cells and cells of the brain. Its low Km for glucose (~1 mM) relative to normal blood glucose concentration (~5 mM) allows these cells to take up glucose independent of changes in blood glucose levels. Defects in SLC2A1 can cause neurological disorders with wide phenotypic variability. The most severe 'classic' phenotype, GLUT1 deficiency syndrome 1 (GLUT1DS1; MIM:606777), comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination and spasticity (Brockmann 2009, De Giorgis & Veggiotti 2013).
Literature References
PubMed ID
Title
Journal
Year
23890838
GLUT1 deficiency syndrome 2013: current state of the art
Veggiotti, P
,
De Giorgis, V
Seizure
2013
19304421
The expanding phenotype of GLUT1-deficiency syndrome
Brockmann, K
Brain Dev.
2009
Participants
Events
SLC2A1 tetramer does not transport Glc from extracellular region to cytosol
(Homo sapiens)
Participates
as an event of
SLC transporter disorders (Homo sapiens)
Disease
Name
Identifier
Synonyms
early infantile epileptic encephalopathy
DOID:0050709
infantile spasm
Authored
Jassal, B (2014-08-22)
Reviewed
Broer, S (2015-08-04)
Created
Jassal, B (2014-08-22)
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text