Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Isoform 5a appears to function as a molecular switch that specifies target genes. Defects in PAX6 are the cause of aniridia (AN). A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. Defects in PAX6 are a cause of Peters anomaly (PAN). Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea. Defects in PAX6 are a cause of foveal hypoplasia (FOVHYP). Foveal hypoplasia can be isolated or associated with presenile cataract. Inheritance is autosomal dominant. Defects in PAX6 are a cause of keratitis hereditary (KERH). An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization. Defects in PAX6 are a cause of coloboma of iris choroid and retina (COI); also known as uveoretinal coloboma. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). Severe colobomatous malformations may cause as much as 10% of the childhood blindness. The clinical presentation of ocular coloboma is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia. Defects in PAX6 are a cause of coloboma of optic nerve (COLON). Defects in PAX6 are a cause of bilateral optic nerve hypoplasia (BONH); also known as bilateral optic nerve aplasia. A congenital anomaly in which the optic disc appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. Defects in PAX6 are a cause of aniridia cerebellar ataxia and mental deficiency (ACAMD); also known as Gillespie syndrome. A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation. Belongs to the paired homeobox family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Motility/polarity/chemotaxis; DNA-binding; Transcription factor
Molecular Function: chromatin binding; DNA binding; histone acetyltransferase binding; protein binding; protein kinase binding; transcription factor activity; transcription factor binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity
Biological Process: astrocyte differentiation; axon guidance; blood vessel development; cell fate determination; central nervous system development; cerebral cortex regionalization; commitment of a neuronal cell to a specific type of neuron in the forebrain; dorsal/ventral axis specification; embryonic camera-type eye morphogenesis; establishment of mitotic spindle orientation; eye development; eye photoreceptor cell development; forebrain anterior/posterior pattern formation; forebrain dorsal/ventral pattern formation; forebrain-midbrain boundary formation; glucose homeostasis; keratinocyte differentiation; lacrimal gland development; lens development in camera-type eye; negative regulation of epithelial cell proliferation; negative regulation of neurogenesis; negative regulation of neuron differentiation; negative regulation of protein amino acid phosphorylation; negative regulation of transcription from RNA polymerase II promoter; neuron fate commitment; neuron migration; oligodendrocyte cell fate specification; organ morphogenesis; pituitary gland development; positive regulation of epithelial cell differentiation; positive regulation of neuroblast proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; protein localization in organelle; protein ubiquitination; regulation of asymmetric cell division; regulation of cell migration; regulation of timing of cell differentiation; regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; response to wounding; retina development in camera-type eye; salivary gland morphogenesis; smoothened signaling pathway; transcription from RNA polymerase II promoter; visual perception
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.