Target：ARX

Gene Name：ARX

Protein Name：Homeobox protein ARX

Human Gene Id：170302

Human Swiss Prot No：Q96QS3

Mouse Gene Id：11878

Mouse Swiss Prot No：O35085

Rat Gene Id：317268

Rat Swiss Prot No：A6YP92

Immunogen：Synthesized peptide derived from ARX . at AA range: 250-330

Specificity：ARX Polyclonal Antibody detects endogenous levels of ARX protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. ELISA: 1:5000. Not yet tested in other applications.

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：ARX;Homeobox protein ARX;Aristaless-related homeobox

Observed Band(KD)：55kD

Background： 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 mental retardation and epilepsy. [provided by RefSeq, Jul 2016],

Function：disease:Defects in ARX are a cause of Partington syndrome (PRTS) [MIM:309510]; also known as X-linked syndromic mental retardation 1 (MRXS1). PRTS is characterized by mental retardation, episodic dystonic hand movements, and dysarthria.,disease:Defects in ARX are the cause of agenesis of corpus callosum with abnormal genitalia (ACC with abnormal genitalia) [MIM:300004]. ACC with abnormal genitalia consists of a brain and genital malformations syndrome.,disease:Defects in ARX are the cause of epileptic encephalopathy early infantile type 1 (EIEE1) [MIM:308350]; 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, characterize

Subcellular Location：Nucleus .

Expression：Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.