ARX Antibody – Mouse Monoclonal

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]

ARX: 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. Defects in ARX are the cause of lissencephaly X-linked type 2 (LISX2); also known as lissencephaly X-linked with ambiguous genitalia (XLAG). LISX2 is a classic type lissencephaly associated with abnormal genitalia. LISX2 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. Defects in ARX are the cause of epileptic encephalopathy early infantile type 1 (EIEE1); also known as myoclonic epilepsy X-linked with intellectual disability and spasticity, X-linked West syndrome or X-linked infantile spasm syndrome (ISSX). EIEE1 is 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. Defects in ARX are a cause of Partington syndrome (PRTS); also known as X-linked syndromic mental retardation 1 (MRXS1). PRTS is characterized by mental retardation, episodic dystonic hand movements, and dysarthria. Defects in ARX are the cause of mental retardation X- linked ARX-related (MRXARX). Mental retardation is a mental disorder characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Defects in ARX are the cause of agenesis of the corpus callosum with abnormal genitalia (ACCAG). A 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. Belongs to the paired homeobox family. Bicoid subfamily.

Protein type: Cancer Testis Antigen (CTA); DNA-binding

Chromosomal Location of Human Ortholog: Xp21.3

Cellular Component: nucleus

Molecular Function: chromatin binding

Biological Process: embryonic olfactory bulb interneuron precursor migration; axon guidance; transcription, DNA-dependent; cerebral cortex GABAergic interneuron migration; cerebral cortex tangential migration; cell proliferation in forebrain; globus pallidus development; negative regulation of transcription from RNA polymerase II promoter; positive regulation of organ growth; lipid digestion; regulation of cell proliferation

Disease: Lissencephaly, X-linked, 2; Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Corpus Callosum, Agenesis Of, With Abnormal Genitalia; Epileptic Encephalopathy, Early Infantile, 1; Partington X-linked Mental Retardation Syndrome