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Mouse Anti-ARX Recombinant Antibody (1A4) (CBMAB-A0509-LY)

The product is antibody recognizes ARX. The antibody 1A4 immunoassay techniques such as: sELISA, ELISA.
See all ARX antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1A4
Antibody Isotype
IgG2a, κ
Application
ELISA

Basic Information

Immunogen
ARX (NP_620689, 1 a.a. ~ 95 a.a) partial recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2a, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4
Preservative
None
Concentration
Batch dependent
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Aristaless Related Homeobox
Introduction
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. [provided by RefSeq]
Entrez Gene ID
170302
UniProt ID
Q96QS3
Alternative Names
ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS
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.
Biological Process
Axon guidance Source: Ensembl
Cell proliferation in forebrain Source: Ensembl
Cerebral cortex GABAergic interneuron migration Source: Ensembl
Cerebral cortex tangential migration Source: Ensembl
Embryonic olfactory bulb interneuron precursor migration Source: Ensembl
Enteric nervous system development Source: GO_Central
Epithelial cell fate commitment Source: Ensembl
Globus pallidus development Source: Ensembl
Lipid digestion Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of organ growth Source: Ensembl
Regulation of cell population proliferation Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Cellular Location
Nucleus
Involvement in disease
Lissencephaly, X-linked 2 (LISX2): A classic type lissencephaly associated with abnormal genitalia. 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.
Developmental and epileptic encephalopathy 1 (DEE1): 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.
Partington syndrome (PRTS): Characterized by mental retardation, episodic dystonic hand movements, and dysarthria.
Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
Agenesis of the corpus callosum, with abnormal genitalia (ACCAG): An 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.

Loring, K. E., Mattiske, T., Lee, K., Zysk, A., Jackson, M. R., Noebels, J. L., & Shoubridge, C. (2021). Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX). Neurobiology of Disease, 153, 105329.

Scalia, B., Venti, V., Ciccia, L. M., Criscione, R., Bianco, M. L., Sciuto, L., ... & Praticò, A. D. (2021). Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations. Journal of Pediatric Neurology.

Maeyama, H., Shinmyo, Y., & Kawasaki, H. (2021). The expression of aristaless-related homeobox in neural progenitors of gyrencephalic carnivore ferrets. Biochemistry and Biophysics Reports, 26, 100970.

Xu, S., & Xu, J. P. (2020). Present status and expectation of aristaless-related homeobox (ARX) in endocrine pancreas. International Journal of Developmental Biology, 63(11-12), 579-587.

Shi, X., Lin, W., Gao, X., Xie, W., Golden, J. A., & Tao, T. (2020). Identification and validation of the phosphorylation sites on Aristaless-related homeobox protein. Bioscience reports, 40(7), BSR20194513.

Gorman, K. M., Cary, H., Gaffney, L., Forman, E., Waldron, D., Al-Delami, F., ... & Allen, N. M. (2018). Status dystonicus due to missense variant in ARX: Diagnosis and management. European Journal of Paediatric Neurology, 22(5), 862-865.

Knific, T., Grazio, S. F., & Rižner, T. L. (2018). Detection of aristaless-related homeobox protein in ovarian sex cord-stromal tumors. Experimental and molecular pathology, 104(1), 38-44.

Cho, I. T., Lim, Y., Golden, J. A., & Cho, G. (2017). Aristaless related homeobox (ARX) interacts with β-catenin, BCL9, and P300 to regulate canonical Wnt signaling. PLoS One, 12(1), e0170282.

Mattiske, T., Moey, C., Vissers, L. E., Thorne, N., Georgeson, P., Bakshi, M., & Shoubridge, C. (2017). An emerging female phenotype with loss‐of‐function mutations in the aristaless‐related homeodomain transcription factor ARX. Human mutation, 38(5), 548-555.

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For research use only. Not intended for any clinical use.

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