Molecular weight (DA)
33kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 10-90
Specificity
PITX3 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008],
Function
disease:Defects in PITX3 are a cause of autosomal dominant congenital cataract (ADCC) [MIM:602669]. ADCC is characterized by dominant transmission of a phenotype consisting of bilateral congenital cataracts in a mother and son without clinical anterior-segment anomalies.,disease:Defects in PITX3 are the cause of posterior polar cataract type 4 (CTPP4) [MIM:610623]. Cataract is the most frequent cause of visual impairment and blindness worldwide. Posterior polar cataract is a distinctive opacity located at the back of the lens. Because of its proximity to the optical center of the eye, posterior polar cataract can have a marked effect on visual acuity.,disease:Defects in PITX3 may be the cause of anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]; also known as anterior segment ocular dysgenesis (ASOD). ASMD includes all malformations involving the first (corneal endothelium and
Protein name
Pituitary homeobox 3 (Homeobox protein PITX3) (Paired-like homeodomain transcription factor 3)
Human protein sequence Database
O75364
Mouse protein sequence database
O35160
Rat protein sequence database
P81062
Cellular localization
Nucleus .
Tissue expression
Highly expressed in developing eye lens.
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