Immunogen
Synthesized peptide derived from human PAX6
Specificity
This antibody detects endogenous levels of Human PAX6
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:1000-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
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
Other name
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
P63016
Cellular localization
Nucleus .; [Isoform 1]: Nucleus .; [Isoform 5a]: Nucleus .
Tissue expression
[Isoform 1]: Expressed in lymphoblasts. ; [Isoform 5a]: Weakly expressed in lymphoblasts.
Contract Us
Follow Us
Location： 
Specification
成功添加到购物车