ARX Gene (Aristaless Related Homeobox)
Key regulator of brain development and interneurons
Gene Information Card
| Symbol | ARX |
|---|---|
| Full Name | Aristaless Related Homeobox |
| Gene Type | protein-coding |
| Chromosomal Location | Xp21.3 |
| NCBI Gene ID | 170302 ncbi.nlm.nih.gov/gene/170302 |
| Ensembl ID | ENSG00000004848 |
| UniProt ID | Q96QS3 |
| OMIM ID | 300382 |
| HGNC ID | 18060 |
| Aliases | CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRXS1, PRTS, SPG86, XH2 |
Description
The ARX gene (Aristaless Related Homeobox) encodes a paired-class homeobox transcription factor essential for the development of the forebrain, pancreas, and testes. It regulates the proliferation, migration, and differentiation of GABAergic interneurons. Mutations in ARX cause a spectrum of X-linked neurodevelopmental disorders including lissencephaly, intellectual disability, epilepsy, and autism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked lissencephaly with abnormal genitalia (XLAG) | Loss of ARX function disrupts interneuron migration and cortical lamination | OMIM #300215 |
| Early infantile epileptic encephalopathy 1 (EIEE1) | ARX polyalanine tract expansions impair transcriptional repression leading to interneuron dysfunction | ClinVar, OMIM #308350 |
| X-linked intellectual disability (MRX29, MRX32, etc.) | Missense and truncating mutations reduce ARX DNA-binding and transactivation | OMIM #300419 |
| Partington syndrome (PRTS) | ARX missense mutations cause dystonia, intellectual disability, and hand anomalies | OMIM #309510 |
| Autism spectrum disorder | ARX variants identified in ASD cohorts affect interneuron development | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Pancreas | 3.2 | Low |
| Testis | 2.1 | Low |
| Heart | 0.8 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.4 | Neuronal model |
| U-87 MG (glioblastoma) | 2.1 | Glial model |
| HEK293 (embryonic kidney) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428_451dup (p.Ala143_Ala150dup) | Polyalanine expansion | Common | Loss of nuclear localization and transcriptional repression |
| c.81C>A (p.Tyr27*) | Nonsense | Rare | Truncation, complete loss of function |
| c.988C>T (p.Arg330Cys) | Missense | Rare | Reduced DNA-binding affinity |
| c.1058C>T (p.Pro353Leu) | Missense | Rare | Impaired transactivation |
Mutation functional classification
Loss of Function (LOF)
Most ARX mutations (nonsense, frameshift, large deletions) result in loss of transcription factor activity, leading to severe phenotypes like XLAG.
Gain of Function (GOF)
Not well documented; some polyalanine expansions may confer dominant-negative effects rather than gain-of-function.
Dominant Negative (DN)
Polyalanine tract expansions (e.g., c.428_451dup) produce mutant ARX that interferes with wild-type ARX function in heterozygous females.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interneuron migration and differentiation
• Forebrain development (cortical lamination)
Protein Summary
The ARX protein (562 amino acids) contains a paired-class homeodomain and an aristaless domain. It functions as a transcriptional repressor and activator, critical for the specification and migration of GABAergic interneurons from the medial ganglionic eminence to the cortex. ARX also plays roles in pancreatic islet development and testicular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BARX2 Knockout HEK293 Cell Line | EDJ-KQ6288 | Human | 8538 | Details Get a Quote |
| ARX Knockout HEK293 Cell Line | EDJ-KQ12447 | Human | 170302 | Details Get a Quote |
| BARX1 Knockout HEK293 Cell Line | EDJ-KQ12516 | Human | 56033 | Details Get a Quote |
| BARX1 Knockout A-549 Cell Line | EDJ-KQ40211 | Human | 56033 | Details Get a Quote |
| BARX1 Knockout HeLa Cell Line | EDJ-KQ41499 | Human | 56033 | Details Get a Quote |
| BARX2 Knockout HeLa Cell Line | EDJ-KQ54936 | Human | 8538 | Details Get a Quote |
| ARX Knockout HeLa Cell Line | EDJ-KQ58931 | Human | 170302 | Details Get a Quote |
| BARX2 Knockout A-549 Cell Line | EDJ-KQ63421 | Human | 8538 | Details Get a Quote |
| ARX Knockout A-549 Cell Line | EDJ-KQ67418 | Human | 170302 | Details Get a Quote |
| BARX2 Knockout HCT 116 Cell Line | EDJ-KQ71886 | Human | 8538 | Details Get a Quote |
| BARX1 Knockout HCT 116 Cell Line | EDJ-KQ73606 | Human | 56033 | Details Get a Quote |
| ARX Knockout HCT 116 Cell Line | EDJ-KQ75813 | Human | 170302 | Details Get a Quote |
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