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Detect ARX using this Anti-ARX Antibody, clone 11F6.2 validated for use in Western Blotting, IHC(P).
More>>Detect ARX using this Anti-ARX Antibody, clone 11F6.2 validated for use in Western Blotting, IHC(P). Less<<
Anti-ARX Antibody, clone 11F6.2: SDB (Sicherheitsdatenblätter), Analysenzertifikate und Qualitätszertifikate, Dossiers, Broschüren und andere verfügbare Dokumente.
Aristaless-related homeobox protein (ARX) is a transcription factor that plays an important role in the development of the brain, testis, and pancreas. The gene targets and nuclear associations of ARX are less clear, although it has been demonstrated that ARX interacts with the Pax4 promoter. However, over fifty ARX mutations have been identified and the resultant phenotypes have been well studied. ARX mutations are X-linked and lead to various syndromes including X-linked West syndrome; X-linked myoclonic epilepsy; Partington syndrome; and X-linked mental retardation.
References
Product Information
Format
Purified
Control
Human pancreas tissue lysate.
Presentation
Purified mouse monoclonal IgG1κ in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.
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. Mutations in this gene cause X-linked mental retardation and epilepsy.
FUNCTION: 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.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: 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.
INVOLVEMENT IN DISEASE: 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.
SEQUENCE SIMILARITIES: Belongs to the paired homeobox family. Bicoid subfamily. Contains 1 homeobox DNA-binding domain.
Molecular Weight
~58 kDa observed. An uncharacterized band may be observed at ~23 kDa in some tissue lysates.
Physicochemical Information
Dimensions
Materials Information
Toxicological Information
Safety Information according to GHS
Safety Information
Product Usage Statements
Quality Assurance
Evaluated by Western Blot in human pancreas tissue lysate.
Western Blot Analysis: 2 µg/mL of this antibody detected ARX in 200 µg of human pancreas tissue lysate.
Usage Statement
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.