NCIt definition : Human ARX wild-type allele is located in the vicinity of Xp21 and is approximately
12 kb in length. This allele, which encodes homeobox protein ARX, is involved in both
the modulation of transcription and brain development. Mutations in the gene are associated
with multiple congenital central nervous system disorders.;
NCIt note : Mutations in the ARX gene are associated with lissencephaly X-linked type 2, X-linked
infantile spasm syndrome, myoclonic epilepsy X-linked with intellectual disability
and spasticity, Partington syndrome, non-syndromic mental retardation X-linked type
54, and agenesis of corpus callosum with abnormal genitalia. (UniProt);
OMIM relation