Molecular weight (DA)
55kD
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.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Protein name
Homeobox protein ARX
Other name
ARX; Homeobox protein ARX; Aristaless-related homeobox
Human protein sequence Database
Q96QS3
Mouse protein sequence database
O35085
Rat protein sequence database
A6YP92
Cellular localization
Nucleus .
Tissue 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.
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