ARX : aristaless related homeobox

Description

The ARX (aristaless related homeobox) is a protein-coding gene located on chromosome X.

The ARX gene provides instructions for producing a protein that regulates the activity of other genes. This protein is called a transcription factor. ARX is part of a larger family of homeobox genes that control the formation of many body structures during early embryonic development. The ARX protein is involved in the development of the brain, pancreas, testes, and skeletal muscles. In the pancreas, testes, and skeletal muscles, it helps cells mature to carry out specific functions. Within the developing brain, ARX protein is involved with movement and communication of nerve cells. Specifically, it regulates genes that control the migration of specialized neurons (interneurons) to their proper location. Interneurons relay signals between other neurons.

ARX acts as a transcription factor, binding to the 5'-TAATTA-3' sequence in regulatory elements of target genes, such as the histone demethylase KDM5C. It positively regulates KDM5C transcription, working synergistically with the histone lysine demethylase PHF8, possibly in competition with the transcription regulator ZNF711. This synergy may involve enrichment of histone H3K4me3 in regulatory elements. ARX is crucial for normal brain development, contributing to neuronal proliferation, interneuronal migration, and differentiation in the embryonic forebrain. It may also participate in axonal guidance in the floor plate.

ARX is also known as CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS.

Associated Diseases

• Developmental and epileptic encephalopathy 1
• Early infantile epileptic encephalopathy
• Partington syndrome
• X-linked lissencephaly with abnormal genitalia
• Corpus callosum, agenesis of, with abnormal genitalia
• Corpus callosum agenesis-abnormal genitalia syndrome
• Lissencephaly, X-linked, 2
• Mental retardation, X-linked, with or without seizures, arx-related
• X-linked spasticity-intellectual disability-epilepsy syndrome
• Infantile spasms syndrome
• Early infantile epileptic encephalopathy 1