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AG983 PAX6 Control Peptide for AB5409

PAX6 Control Peptide for AB5409: SDB (Sicherheitsdatenblätter), Analysenzertifikate und Qualitätszertifikate, Dossiers, Broschüren und andere verfügbare Dokumente.
Gene Symbol: PAX6, WAGR, Oculorhombin, D11S812E, AN2, MGDA, MGC17209, AN UniProt Number: P26367
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AG983
100 µg  
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      Übersicht

      Replacement Information
      Description
      Catalogue NumberAG983
      Brand Family Chemicon®
      Trade Name
      • Chemicon
      DescriptionPAX6 Control Peptide for AB5409
      References
      Product Information
      PresentationWhite lyophilized powder; reconstitute to 1 mg/ml in deionized water.
      Quality LevelMQ100
      Applications
      Key Applications
      • Peptide Inhibition Assay
      Application NotesAntibody blocking (AB5409)
      Optimal working concentration must be determined by the end user.
      Biological Information
      Concentration1 mg/mL
      Entrez Gene Number
      Entrez Gene SummaryThis gene encodes 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 gene 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.
      Gene Symbol
      • PAX6
      • WAGR
      • Oculorhombin
      • D11S812E
      • AN2
      • MGDA
      • MGC17209
      • AN
      UniProt Number
      UniProt SummaryFUNCTION: SwissProt: P26367 # 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. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.
      SIZE: 422 amino acids; 46683 Da
      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: SwissProt: P26367 # 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. & 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. & 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. & 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. & 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. & 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. & Defects in PAX6 are a cause of coloboma of optic nerve [MIM:120430]. & 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: SwissProt: P26367 ## Belongs to the paired homeobox family. & Contains 1 homeobox DNA-binding domain. & Contains 1 paired domain.
      Physicochemical Information
      Dimensions
      Materials Information
      Toxicological Information
      Safety Information according to GHS
      Safety Information
      Product Usage Statements
      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.
      Storage and Shipping Information
      Storage ConditionsStore at -20°C in undiluted aliquots for up to 6 months after date of receipt. Avoid repeated freeze/thaw cycles.
      Packaging Information
      Material Size100 µg
      Transport Information
      Supplemental Information
      Specifications
      Global Trade Item Number
      Bestellnummer GTIN
      AG983 04053252322136