产品名称
PITX3 Rabbit Polyclonal Antibody
蛋白名称
Pituitary homeobox 3 (Homeobox protein PITX3) (Paired-like homeodomain transcription factor 3)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
O75364
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O75364/entry
Mouse Swissprot No.
O35160
Mouse Swissprot Link
http://www.uniprot.org/uniprot/O35160
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P81062
免疫原
Synthesized peptide derived from human protein . at AA range: 10-90
特异性
PITX3 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Highly expressed in developing eye lens.
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 trabecular meshwork), second (corneal stroma) and third (iris stroma) mesenchymal waves of neural crest. The ASMD phenotype is characterized by corneal opacities with or without iris adhesions in 100%, cataracts of varying severity in 100% and optic-nerve abnormalities in 20% of affected individuals.,function:May play a role in normal anterior-chamber and lens development.,similarity:Belongs to the paired homeobox family. Bicoid subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,similarity:Contains 1 OAR domain.,tissue specificity:Highly expressed in developing eye lens.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
