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ARX Polyclonal Antibody
Datasheet
Catalog Number:
E20-70346Amount:
100ulReactivity:
Human,Mouse,RatPurification:
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen..Immunogen:
Synthesized peptide derived from ARX . at AA range: 250-330Source:
Polyclonal, Rabbit
- Western Blot analysis of 293 cells using ARX Polyclonal Antibody cells nucleusextracted by Minute TM Cytoplasmic and Nuclear Fractionation kit (SC-003,Inventbiotech,MN,USA).
Gene Name:
ARXDilution:
Western Blot: 1/500 - 1/2000. ELISA: 1/5000. Not yet tested in other applications.Protein Name:
Homeobox protein ARXHuman Gene Id:
170302Human Swiss Prot No:
Q96QS3Specificity:
ARX Polyclonal Antibody detects endogenous levels of ARX protein.Formulation:
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.Concentration:
1 mg/mlStorage Stability:
-20°C/1 yearOther Name:
ARX; Homeobox protein ARX; Aristaless-related homeoboxMolecularWeight: 58160DaObserved Band(KD):
55Background:
aristaless related homeobox(ARX) Homo sapiens 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, characterizeSubcellular Location:
nucleus
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