aristaless related homeobox

Summary
Gene Symbol
  • ARX
Organism
Homo sapiens (human)
NCBI Gene
170302
PubChem
170302
Alliance of Genome Resources
JoGo
ARX
TogoVar
ARX
Annotation
Keyword
  • DNA-binding
  • Developmental protein
  • Differentiation
  • Disease variant
  • Epilepsy
  • Homeobox
  • Intellectual disability
  • Lissencephaly
  • Neurogenesis
  • Nucleus
  • Proteomics identification
  • Reference proteome
  • Transcription regulation
  • Triplet repeat expansion
Proteins
Displaying 1 entry
UniProt Protein Name
Q96QS3
  • Aristaless-related homeobox
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0060806 syndromic X-linked intellectual disability Hedera type
DOID:0080468 developmental and epileptic encephalopathy 1
DOID:0112021 non-syndromic X-linked intellectual disability ARX-related
DOID:0112151 corpus callosum agenesis-abnormal genitalia syndrome
DOID:0112238 X-linked lissencephaly 2
DOID:14744 Partington syndrome

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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: April 6, 2026