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SKU:YP-Ab-15810-100UL
PAX6 rabbit pAb
PAX6 rabbit pAb
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- Gene Name: PAX6 AN2
- Immunogen: Synthesized peptide derived from human PAX6
- Specificity: This antibody detects endogenous levels of Human PAX6
- Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
- Source: Polyclonal, Rabbit,IgG
- Dilution ratio: WB 1:1000-2000 ELISA 1:5000-20000
- Purification process: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
- Concentration: 1 mg/ml
- Storage: -20°C/1 year
- Other Names: Paired box protein Pax-6 (Aniridia type II protein;Oculorhombin)
- Background: This gene encodes a homeobox and paired domain-containing protein that binds DNA and functions as a regulator of transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015],
- Function: developmental stage:Expressed in the developing eye and brain.,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 bilateral optic nerve hypoplasia [MIM:165550]; also known as bilateral optic nerve aplasia. Inheritance is autosomal dominant.,disease:Defects in PAX6 are a cause of coloboma of optic nerve [MIM:120430].,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 Gillespie
- Species: Human;Rat;Mouse;
- Range: WB; ELISA
- Protein: PAX6
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