Rat paired box 6 ELISA Kit | PAX6 elisa kit

Rat Paired box protein Pax-6, PAX6 ELISA Kit

Cat. Num. AAA9330736

• Reactivity: Rat
• Synonyms: paired box 6; Rat Paired box protein Pax-6; PAX6 ELISA Kit; Rat Paired box protein Pax-6 (PAX6) ELISA kit; AN; AN2; D11S812E; MGC17209; MGDA; WAGR; OTTHUMP00000038834; OTTHUMP00000038836; OTTHUMP00000038837; OTTHUMP00000038838; OTTHUMP00000038839; OTTHUMP00000038840; paired box gene 6; paired box homeotic gene-; PAX6 elisa kit

• Reactivity: Rat

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 6981334
• NCBI GeneID: 25509
• NCBI Accession #: NP_037133.1
• NCBI GenBank Nucleotide #: NM_013001.2
• UniProt Accession #: P63016; P32117; P70601; Q62222; Q64037; Q6QHS5; Q701Q8; A1A5N7
• Molecular Weight: 46,754 Da
• NCBI Official Full Name: paired box protein Pax-6
• NCBI Official Synonym Full Names: paired box 6
• NCBI Official Symbol: Pax6
• NCBI Protein Information: paired box protein Pax-6; oculorhombin; paired box gene 6; paired box homeotic gene 6
• UniProt Protein Name: Paired box protein Pax-6
• Protein Family: Paired box protein
• UniProt Gene Name: Pax6
• UniProt Synonym Gene Names: Pax-6; Sey
• UniProt Entry Name: PAX6_RAT

NCBI Description

homeodomain (HD)-containing transcription factor; may play a role in the differentiation of the hindbrain somatic (SM) motoneurones and V1 interneurones in the hindbrain and/or spinal cord [RGD, Feb 2006]

Uniprot Description

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: DNA-binding; Motility/polarity/chemotaxis; 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; protein kinase binding; transcription factor activity; transcription factor binding

Biological Process: regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; multicellular organismal development; 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; camera-type eye development; cell fate commitment; positive regulation of cell fate specification; transcription, DNA-dependent; oligodendrocyte cell fate specification; interkinetic nuclear migration; keratinocyte differentiation; regulation of transcription from RNA polymerase II promoter; forebrain-midbrain boundary formation; eye photoreceptor cell development; negative regulation of neuron differentiation; regulation of gene expression; retina development in camera-type eye; rhombomere morphogenesis; regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment; forebrain anterior/posterior pattern formation; positive regulation of transcription from RNA polymerase II promoter; lens development in camera-type eye; transcription from RNA polymerase II promoter; axon guidance; regulation of asymmetric cell division; neuron migration; forebrain dorsal/ventral pattern formation; dorsal/ventral axis specification; negative regulation of transcription from RNA polymerase II promoter; cerebral cortex regionalization; negative regulation of cell proliferation; regulation of neurogenesis; establishment of mitotic spindle orientation; astrocyte differentiation; regulation of transcription, DNA-dependent; negative regulation of protein amino acid phosphorylation; 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; axonogenesis; dorsal/ventral pattern formation; commitment of a neuronal cell to a specific type of neuron in the forebrain; pituitary gland development; 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