Western Blot (WB)
(ARX monoclonal antibody (M08), clone 4A8 Western Blot analysis of ARX expression in SJCRH30 (Cat # L027V1).)
Mouse ARX Monoclonal Antibody | anti-ARX antibody
ARX (aristaless Related Homeobox, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS) (PE)
Western Blot (WB)
(ARX monoclonal antibody (M08), clone 4A8 Western Blot analysis of ARX expression in SJCRH30 (Cat # L027V1).)
Western Blot (WB)
(ARX monoclonal antibody (M08), clone 4A8 Western Blot analysis of ARX expression in SJCRH30 (Cat # L027V1).)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on ARX
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Product Notes
The ARX arx (Catalog #AAA6185181) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's ARX can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Applications are based on unconjugated antibody. Researchers should empirically determine the suitability of the ARX arx for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ARX, Monoclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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