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.,
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.,
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