ARX

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. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]

Aristaless Related Homeobox

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.

Axon guidance Source: Ensembl
Cell proliferation in forebrain Source: Ensembl
Cerebral cortex GABAergic interneuron migration Source: Ensembl
Cerebral cortex tangential migration Source: Ensembl
Embryonic olfactory bulb interneuron precursor migration Source: Ensembl
Enteric nervous system development Source: GO_Central
Epithelial cell fate commitment Source: Ensembl
Globus pallidus development Source: Ensembl
Lipid digestion Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of organ growth Source: Ensembl
Regulation of cell population proliferation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central

Nucleus

Lissencephaly, X-linked 2 (LISX2): A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.
Developmental and epileptic encephalopathy 1 (DEE1): A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
Partington syndrome (PRTS): Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.
Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Agenesis of the corpus callosum, with abnormal genitalia (ACCAG): An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, mental retardation and seizures. Manifestations in surviving males include severe acquired micrencephaly, mental retardation, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.