Search for a gene
ARX - aristaless related homeobox
- Synonym(s) : cancer/testis antigen 121, CT121, EIEE1, ISSX
- Previous symbols and names : MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, mental retardation, X-linked 29, mental retardation, X-linked 32, mental retardation, X-linked 33, mental retardation, X-linked 36, mental retardation, X-linked 38, mental retardation, X-linked 43, mental retardation, X-linked 54, mental retardation, X-linked 76, mental retardation, X-linked 87
- Type : gene with protein product
- Chromosomal location : Xp21.3
- OMIM: 300382
- HGNC: 18060
- UniProtKB: Q96QS3
- Genatlas: ARX
- GenCC: ARX
- Ensembl: ENSG00000004848
- IUPHAR-DB: -
- Reactome: -
- LOVD: ARX
Diseases list
- Disease-causing germline mutation(s) in Corpus callosum agenesis-abnormal genitalia syndrome
ORPHA:2508 
- Disease-causing germline mutation(s) in Early infantile epileptic encephalopathy
ORPHA:1934 - Disease-causing germline mutation(s) in Infantile spasms syndrome
ORPHA:3451 - Disease-causing germline mutation(s) in Partington syndrome
ORPHA:94083 - Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
ORPHA:777 - Disease-causing germline mutation(s) in X-linked spasticity-intellectual disability-epilepsy syndrome
ORPHA:3175 - Disease-causing germline mutation(s) (loss of function) in Infantile epileptic-dyskinetic encephalopathy
ORPHA:364063 - Disease-causing germline mutation(s) (loss of function) in X-linked lissencephaly with abnormal genitalia
ORPHA:452
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.