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品种反应性 主要应用 宿主 格式 抗体类型 Ch, M, R ICC, WB Rb Affinity Purified Polyclonal Antibody 描述 产品目录编号 AB2237 Replaces AB5409 描述 Anti-PAX6 Antibody Alternate Names - paired box homeotic gene-6
- Aniridia type II protein
- paired box 6
- paired box gene 6
- paired box gene 6 (aniridia, keratitis)
- keratitis)
背景信息 PAX6 is the most researched of the PAX genes and appears throughout the literature as a "master control" gene for the development of eyes and other sensory organs, certain neural and epidermal tissues as well as other homologous structures, usually derived from ectodermal tissues. This transcription factor is most famous for its use in the interspecifically induced expression of ectopic eyes and is of medical importance because heterozygous mutants produce a wide spectrum of ocular defects such as Aniridia in humans. This 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. 产品信息 格式 Affinity Purified 控制 - Mouse and rat brain lysates
演示 Immunoaffinity purified rabbit polyclonal antibody in buffer containing 0.1M Tris-Glycine (pH7.4) 150mM NaCl with 0.05% NaN3. 应用 应用 Anti-PAX6 Antibody detects level of PAX6 & has been published & validated for use in WB & IC. 主要应用 - Immunocytochemistry
- Western Blotting
应用说明 Immunocytochemistry:
Working dilutions of 1:50 - 1:1,000 of Anti-Pax6 was used to resolve the protein in chicken spinal cord.生物信息 免疫原品种 KLH conjugated followed by PAX6 corresponding to the C-Terminus 表位 C-Terminus 浓缩 Please refer to the Certificate of Analysis for the lot-specific concentration. 宿主 Rabbit 特异性 This antibody recognizes the C-Terminus of PAX6. 品种反应性 ChickenMouseRat 抗体类型 Polyclonal Antibody Entrez基因编号 - NM_013627
基因符号 - WAGR
- AN
- AN2
- D11S812E
- MGC17209
- MGDA
- OTTHUMP00000038833
- OTTHUMP00000038834
- OTTHUMP00000038835
- OTTHUMP00000038836
- OTTHUMP00000038837
- OTTHUMP00000038838
- OTTHUMP00000038839
- OTTHUMP00000038840
- Oculorhombin
非反应性品种 - Human
纯化方法 Antigen affinity purified UniProt编号 - P26367
UniProt汇总 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. 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.
SUBUNIT STRUCTURE: Interacts with MAF and MAFB By similarity.
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. Ref.11 Ref.14 Ref.15 Ref.16 Ref.18 Ref.20 Ref.21 Ref.22 Ref.23 Ref.25 Ref.26 Ref.27 Ref.28 Ref.30 Ref.31 Ref.32
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. Ref.12 Ref.29
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. Ref.21
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. Ref.21 Ref.13
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.
Defects in PAX6 are a cause of Gillespie syndrome [MIM:206700]; also called aniridia cerebellar ataxia and mental deficiency. Gillespie syndrome is a rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform smoothly coordinated voluntary movements, and mental retardation. It is not yet clear whether the disorder has an autosomal recessive or dominant inheritance. Ref.33
SIMILARITY: Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.
Contains 1 paired domain.
产品使用声明 质量保证 Routinely evaluated by Western Blot on rat and mouse brain lysates.
Western Blot Analysis:
0.5 µg/mL of this lot detected PAX6 on 10 µg of mouse and rat brain lysates.
使用声明 - 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.
储存和货运信息 存储条件 Stable for 1 year at 2-8ºC from date of receipt. 包装信息 数量 100 µg
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