gamma-aminobutyric acid type A receptor subunit alpha1

Summary
Gene Symbol
  • GABRA1
Organism
Homo sapiens (human)
External Links
NCBI Gene
2554
PubChem
2554
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Cell membrane
  • Chloride channel
  • Cytoplasmic vesicle
  • Disease variant
  • Disulfide bond
  • Epilepsy
  • Glycoprotein
  • Ligand-gated ion channel
  • Postsynaptic cell membrane
  • Receptor
  • Reference proteome
  • Signal
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
P14867
  • GABA(A) receptor subunit alpha-1
A8K177
  • GABA(A) receptor subunit alpha-1
Gene Ontology (GO)
GO Hierarchy
Displaying entry 6 - 6 of 6 in total
GO Term Evidence Code PMID
GABA-gated chloride ion channel activity
GO Hierarchy
Disease
Disease Ontology
Displaying all 5 entries
DO ID Disease Name Source
DOID:0080431 developmental and epileptic encephalopathy 19
DOID:0111314 idiopathic generalized epilepsy 13
DOID:13413 hepatic encephalopathy
DOID:1827 idiopathic generalized epilepsy
DOID:7725 epilepsy with generalized tonic-clonic seizures

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024