Aliases for ARX Gene
External Ids for ARX Gene
Previous Symbols for ARX Gene
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008]
GeneCards Summary for ARX Gene
ARX (Aristaless Related Homeobox) is a Protein Coding gene. Diseases associated with ARX include epileptic encephalopathy, early infantile, 1 and x-linked lissencephaly with abnormal genitalia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is PHOX2B.
UniProtKB/Swiss-Prot for ARX Gene
Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate