Immunogen
Purified recombinant fragment of human Pax-6 expressed in E. Coli.
Specificity
Pax-6 Monoclonal Antibody detects endogenous levels of Pax-6 protein.
Formulation
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
Dilution rate
Western Blot: 1/500 - 1/2000. Flow cytometry: 1/200 - 1/400. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
Affinity purification
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
Protein name
Paired box protein Pax-6
Other name
PAX6; AN2; Paired box protein Pax-6; Aniridia type II protein; Oculorhombin
Fields
>>Signaling pathways regulating pluripotency of stem cells;>>Maturity onset diabetes of the young
Human protein sequence Database
P26367
Mouse protein sequence database
P63015
Rat protein sequence database
Cellular localization
Nucleus .; [Isoform 1]: Nucleus .; [Isoform 5a]: Nucleus .
Tissue expression
[Isoform 1]: Expressed in lymphoblasts. ; [Isoform 5a]: Weakly expressed in lymphoblasts.
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