PITX3

PITX3 is 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.

Paired like homeodomain 3

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity).

AgingIEA:Ensembl
Anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Animal organ morphogenesisManual Assertion Based On ExperimentTAS:ProtInc
Cellular response to glial cell derived neurotrophic factorIEA:Ensembl
Dopaminergic neuron differentiationISS:UniProtKB
Lens development in camera-type eyeISS:UniProtKB
Lens fiber cell differentiationIEA:Ensembl
Lens morphogenesis in camera-type eyeISS:UniProtKB
Locomotory behaviorIEA:Ensembl
Midbrain developmentISS:UniProtKB
Negative regulation of gliogenesisIEA:Ensembl
Neuron developmentIEA:Ensembl
Positive regulation of cell proliferation in midbrainIEA:Ensembl
Positive regulation of neuron apoptotic processIEA:Ensembl
Positive regulation of transcription, DNA-templatedISS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedISS:UniProtKB
Response to cocaineIEA:Ensembl
Response to immobilization stressIEA:Ensembl
Response to methamphetamine hydrochlorideIEA:Ensembl
Response to morphineIEA:Ensembl

Nucleus

Anterior segment dysgenesis 1 (ASGD1):
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
Cataract 11, multiple types (CTRCT11):
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.