基因名称(Gene Name)
PITX3 PTX3
蛋白名称
Pituitary homeobox 3 (Homeobox protein PITX3) (Paired-like homeodomain transcription factor 3)
免疫原
Synthesized peptide derived from human protein . at AA range: 10-90
特异性
PITX3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
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
