ARX
Chr XXLRX-linkedaristaless related homeobox
Also known as: CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38
The protein is a homeobox transcription factor that regulates central nervous system development and contains a conserved aristaless domain and homeobox domain. Mutations cause a spectrum of X-linked disorders including developmental and epileptic encephalopathy, intellectual disability, lissencephaly, and other neurodevelopmental syndromes with varying combinations of seizures, cognitive impairment, and brain malformations. The pathogenic mechanism involves loss of function, with polyalanine tract expansions being a common mutation type.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARX · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Precision Medicine in the Treatment of Epilepsy
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGSwiss Rare Disease Registry (SRDR)
RECRUITINGA Study of PARG Inhibitor IDE161 in Participants With Advanced Solid Tumors
RECRUITINGExternal Resources
Links to major genomics databases and tools