Paired Box 6 (PAX6) ELISA Kit for Mouse

This gene encodes a homeobox-containing protein that functions as a regulator of transcription. It plays a key role in the development of neural tissues, particularly the eye. Activity of this protein is also required for expression of glucagon in the pancreas. This gene is regulated by multiple enhancers located up to tens or hundreds of kilobases upstream and downstream of the transcription start sites. Mutations in this gene or deletion of these regulatory elements results in severe defects in eye development. Alternative splicing and the use of alternative promoters results in multiple transcript variants, some of which encode proteins that lack the N-terminal paired domain. [provided by RefSeq, Jul 2015]

PAX6: 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.

Protein type: Motility/polarity/chemotaxis; DNA-binding; Transcription factor

Cellular Component: nucleoplasm; transcription factor complex; cell; nuclear chromatin; cytoplasm; intracellular; nucleus

Molecular Function: histone acetyltransferase binding; protein binding; DNA binding; AT DNA binding; sequence-specific DNA binding; ubiquitin protein ligase binding; double-stranded DNA binding; chromatin binding; transcription factor binding; transcription factor activity; protein kinase binding

Biological Process: regulation of neuron differentiation; multicellular organismal development; positive regulation of transcription, DNA-dependent; cell fate determination; telencephalon regionalization; glucose homeostasis; regulation of cell migration; anterior/posterior pattern formation; positive regulation of epithelial cell differentiation; epithelial cell development; pallium development; neural crest cell migration; hindbrain development; positive regulation of neuroblast proliferation; cell fate commitment; camera-type eye development; transcription, DNA-dependent; positive regulation of cell fate specification; oligodendrocyte cell fate specification; interkinetic nuclear migration; keratinocyte differentiation; regulation of transcription from RNA polymerase II promoter; forebrain-midbrain boundary formation; negative regulation of neuron differentiation; eye photoreceptor cell development; regulation of gene expression; retina development in camera-type eye; rhombomere morphogenesis; forebrain anterior/posterior pattern formation; regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter; lens development in camera-type eye; axon guidance; regulation of asymmetric cell division; neuron migration; dorsal/ventral axis specification; forebrain dorsal/ventral pattern formation; negative regulation of transcription from RNA polymerase II promoter; cerebral cortex regionalization; negative regulation of cell proliferation; regulation of neurogenesis; negative regulation of protein amino acid phosphorylation; regulation of transcription, DNA-dependent; astrocyte differentiation; establishment of mitotic spindle orientation; forebrain development; salivary gland morphogenesis; lacrimal gland development; cell differentiation; regulation of timing of cell differentiation; negative regulation of epithelial cell proliferation; blood vessel development; smoothened signaling pathway; olfactory bulb development; dorsal/ventral pattern formation; axonogenesis; pituitary gland development; commitment of a neuronal cell to a specific type of neuron in the forebrain; protein localization in organelle; regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification; regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification; embryonic camera-type eye morphogenesis; brain development