PAX6 antibody, paired box gene 6 (aniridia, keratitis) Antibody, Mouse Monoclonal Antibody

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paired box gene 6 (aniridia, keratitis) Antibody, Mouse Monoclonal Antibody

Catalog Number: 20-372-60034

Buy PAX6 antibody -

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Related Product Names:

- PAX6 antibody; PAX6; AN2; MGDA; AN; D11S812E; WAGR; paired box gene 6 (aniridia, keratitis)
- Mouse monoclonal anti-human PAX6 antibody; Oculorhombin; Aniridia type II protein; Paired box gene 6 isoform a; Paired box protein Pax-6

- Gene Information - Information in yellow represents specific gene information and does not necessarily represent specific product details. For more information please contact sales@genwaybio.com.

Gene Name: PAX6	Gene Name Synonym: AN2; MGDA; AN; D11S812E; WAGR
Gi #: 4505615	NCBI Acc #: NP_000271.1	Swiss Prot Acc #: P26367
Length (aa): 422	Mol. Weight (Da): 46683	Chrom Location: N/A

Clone: PAX5I326

IGG Subclass: IgG1

Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.

Sterility: Filtered through a 0.22 um membrane.

Disposal: This antibody solution contain sodium azide (NaN₃) as a preservative. There is a potential hazard that NaN₃ reacts with copper or lead to produce an explosive compound. For safe disposal, the vial has to be washed thoroughly with water.

Source/Host: Mouse

Clonality: Monoclonal

Crossreactivity: Human

Format: Mouse monoclonal anti-human PAX6 antibody in PBS (3.0 mM KCl, 1.5 mM K2HPO4, 140 mM NaCl, 8.0 mM Na2HPO4 (pH 7.4)) containing 1% bovine serum albumin (BSA) and 0.05% sodium azide (NaN3)

Storage: Store at 2-8 C for up to one year. We recommend storing at -20 C for long-term storage. Avoid repeat freezing and thawing cycles.

Shipping: Products may be shipped on ice pack or dry ice.

APPLICATIONS for PAX6 ANTIBODY:

ELISA: Tested

TESTING: (secondary reagents and protocols )

Western Blot ( anti-PAX6 )

PAX6 antibody tern B image
PAX6

PAX6 ANTIBODY TARGET DESCRIPTION:

Synonym Names for PAX6 antibody: PAX6; AN2; MGDA; AN; D11S812E; WAGR; Mouse monoclonal anti-human PAX6 antibody; Oculorhombin; Aniridia type II protein; Paired box gene 6 isoform a; Paired box protein Pax-6

Function: Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.

Subcellular Location: Nucleus.

Tissue Specificity: Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Developmental Stage: Expressed in the developing eye and brain.

Disease: Defects in PAX6 are the cause of aniridia type II (AN2) [MIM:106210]. AN2 is a bilateral panocular disorder characterized by complete or partial absence of the iris, absence of the fovea and malformations of the lens and anterior chamber. Severe age-related corneal degeneration is a frequent complication which contributes to a poor visual prognostis in aniridia. About one third of the cases are sporadic, and two thirds are familial, with autosomal dominant inheritance and high penetrance. Nearly one third of sporadic AN patients develop Wilms tumor in association with genitourinary anomalies and mental retardation (WAGR syndrome) as a consequence of heterozygous (sub)microscopic deletions of chromosome 11p13.

Disease: Defects in PAX6 are a cause of Peters anomaly [MIM:604229]. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.

Disease: Defects in PAX6 are a cause of ectopia pupillae [MIM:129750]. It is a congenital eye malformation in which the pupils are displaced from their normal central position.

Disease: Defects in PAX6 are a cause of foveal hypoplasia [MIM:136520]. Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant.

Disease: Defects in PAX6 are a cause of autosomal dominant keratitis [MIM:148190]. It is an eye disorder characterized by corneal opacification and vascularization, and by foveal hypoplasia.

Disease: Defects in PAX6 are a cause of ocular coloboma [MIM:120200]; also known as uveoretinal coloboma or coloboma of iris, choroid and retina. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

Disease: Defects in PAX6 are a cause of coloboma of optic nerve [MIM:120430].

Disease: Defects in PAX6 are a cause of bilateral optic nerve hypoplasia [MIM:165550]; also known as bilateral optic nerve aplasia. Inheritance is autosomal dominant.

Similarity: Belongs to the paired homeobox family.

Similarity: Contains 1 homeobox DNA-binding domain.

Similarity: Contains 1 paired domain.

Summary: This protein is paired box gene 6, one of many human homologues of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This protein is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause aniridia as well as Peter's anomaly, both ocular diseases.

paired box gene 6 (aniridia, keratitis) reacts with human.

OMIM: 106210; phenotype. [NCBI / EBI]
120200; phenotype. [NCBI / EBI]
120430; phenotype. [NCBI / EBI]
129750; phenotype. [NCBI / EBI]
136520; phenotype. [NCBI / EBI]
148190; phenotype. [NCBI / EBI]
165550; phenotype. [NCBI / EBI]
604229; phenotype. [NCBI / EBI]
607108; gene. [NCBI / EBI]

Pathways:
KEGG pathway: Maturity onset diabetes of the young 04950

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PRODUCT INTERACTIONS:

SUGGESTED ANITBODY REAGENTS - GenWay has an extensive selection of reagents useful for antibody applications. Find blocking buffers, stop reagents, chemiluminescent substrates, diluents, Immunohistochemistry reagents & more.

BACKGROUND REFERENCES for PAX6 ANTIBODY:

Background references for antibody target are not specific to GenWay products

[1] Bamiou,D.E., Free,S.L., Sisodiya,S.M., Chong,W.K., Musiek,F., Williamson,K.A., van Heyningen,V., Moore,A.T., Gadian,D. and, et al.
     Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
[2] Manuel,M., Georgala,P.A., Carr,C.B., Chanas,S., Kleinjan,D.A., Martynoga,B., Mason,J.O., Molinek,M., Pinson,J., Pratt,T.,, et al.
     Controlled overexpression of Pax6 in vivo negatively autoregulates the Pax6 locus, causing cell-autonomous defects of late cortical progenitor proliferation with little effect on cortical arealization
[3] Dansault,A., David,G., Schwartz,C., Jaliffa,C., Vieira,V., de la Houssaye,G., Bigot,K., Catin,F., Tattu,L., Chopin,C., Halimi,P.,, et al.
     Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities
[4] Ticho,B.H., Hilchie-Schmidt,C., Egel,R.T., Traboulsi,E.I., Howarth,R.J. and Robinson,D.
     Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation
[5] Neethirajan,G., Nallathambi,J., Krishnadas,S.R., Vijayalakshmi,P., Shashikanth,S., Collinson,J.M. and Sundaresan,P.
     Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
[6] Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M., et al.
     Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.
[7] Glaser T., Walton D.S., Maas R.L.
     Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.
[8] Liu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.
     Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[9] Wilkinson J.
     Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
[10] Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D.S., Maas R.L.
     Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

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Precautions: PAX6 antibody is for in vitro research use only. Not for use in diagnostics or therapeutic procedures.

Important Notes: During shipment, small volumes of PAX6 antibody vial. For products with volumes of 200 µL or less, we recommend gently tapping the vial on a hard surface or briefly centrifuging the vial in a tabletop centrifuge to dislodge any liquid in the container’s cap. Actual concentration, volume and quantity will be printed on the vial's label. Please refer to the vials label for this information.

Copyright: This GenWay TDS is copyrighted. This datasheet is produced based partially on data from Swiss-Prot/TrEMBL and NCBI. To better serve our clients with everything we know about PAX6 antibody, all related information, articles, resources about PAX6 antibody are being stored on our online database. Let us know if you have questions regarding this product.

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