Aristaless-related homeobox protein (ARX)

Aristaless-related homeobox protein (ARX) is a transcription factor encoded by the ARX gene on the X chromosome. It is a member of the homeobox gene family and contains conserved domains including a paired-like homeodomain and an aristaless domain. ARX is crucial for embryonic development, especially of the brain, pancreas, testes, and skeletal muscles. Its primary molecular function is as a DNA-binding transcriptional repressor, acting on genes involved in neuronal migration, differentiation, and proliferation. ARX binds to a core “TAAT” sequence within promoter regions and can act through protein-protein interactions involving Groucho and CtBP co-repressors[1][2][3][5]. Mutations in ARX, both point and polyalanine repeat expansions, are associated with a broad spectrum of neurodevelopmental disorders (X-linked intellectual disability, lissencephaly, infantile epileptic encephalopathy, Partington syndrome), often involving severe brain malformations, epilepsy, and endocrine defects[1][3][5]. ARX is thus considered a critical therapeutic and diagnostic target for congenital brain disorders, epilepsy, and intellectual disabilities.

Other names

Homeobox protein ARXISSXCT121EIEE1cancer/testis antigen 121MRX29MRX32MRX33MRX36MRX38MRX43MRX54MRX76MRX87MRXS1PRTS