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Validated All-in-One™ qPCR Primer for PAX6(NM_001127612.3) Search again
Product ID:
HQP158262
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Gene Description:
paired box 6
Target Gene Accession:
NM_001127612.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA, and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly.
Gene References into function
- HoxB1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human HoxB1.
- Pbx1 interacts with Pax6 and enhances its transcriptional activity. This interaction was modeled on a demonstrated interaction between zebrafish Pax6 and human Pbx1.
- New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region
- mDia influences Pax6-induced transcriptional activity and axonal pathfinding in a way opposite from ROCK (Rho kinase) and that it may act via Pax6 to modulate early neuronal development
- Independent modifying factors underlie the variability of the different phenotypic features of the PAX6 mutation in aniridia.
- Mutations of the PAX6 gene were detected in patients with a variety of optic-nerve malformations.
- in 24 humans heterozygous for defined PAX6 mutations, widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria were demonstrated
- We report for the first time the identification of PAX6 gene mutations in Indian aniridia patients.
- PAX6 gene mutations are associated with aniridia
- This study confirms that foveal hypoplasia in the so-called isolated form have a similar origin as in aniridia namely PAX6 mutation and that it is a symptom in all cases while the iris anomaly may be variable.
- The possible role of PAX6 includes neurodevelopmental roles not only in visual and olfactory sensory domains but also in higher-order auditory processing.
- The brain functional differences in humans with PAX6 mutation that are compatible both with anatomical abnormalities in the same subjects.
- Patients with PAX6 gene mutations and agenesis of the anterior commissure performed more poorly on measures of working memory than those without this abnormality, suggesting the anterior commissure may play a role in cognitive processing
- Study supports the hypothesis that a mutation in the PAX6 gene correlates with expression of aniridia.
- These results are consistent with deficient auditory interhemispheric transfer in patients with a PAX6 mutation, which may be attributable to structural and/or functional abnormalities of the anterior commisure and corpus callosum.
- The association of anterior segment anomalies and foveal hypoplasia with one of the slightest alterations of the PAX6 protein described to date confirms the association of variant phenotypes
- Epidermal growth factor-induced proliferation requires down-regulation of Pax6 in corneal epithelial cells
- Pax6(+5a) induces a developmental cascade in the prospective fovea, area centralis or visual streak region that leads to the formation of a retinal architecture bearing densely packed visual cells.
- Transient overexpression of PAX6 via adenovirus suppressed cell growth by increasing the number of cells in G1 and by decreasing the number of cells in S-phase, and later on caused a dramatic level of cell death.
- central roles in neural retina transdifferentiation
- A novel PAX6 gene mutation was identified in a Chinese aniridia family. This mutation may also contribute to congenital cataracts in these aniridia patients.
- The consistent association of truncating mutations with the aniridia phenotype, and the distribution of truncating mutations in the PAX6 open reading frame, suggests that nonsense-mediated decay acts on PAX6 mutant alleles
- PAX6 interacts with HOMER3, DNCL1, and TRIM11. Three C-terminal PAX6 mutations, previously identified in patients with eye malformations, all reduced or abolished the interactions.
- Pax6 regulation of Optimedin in the eye and brain may directly affect multiple developmental processes, including cell migration and axon growth
- HIPK2 is an upstream protein kinase for Pax6 that may modulate Pax6-mediated transcriptional regulation
- X-ray analysis of the Pax6 paired domain bound to the Pax6 gene enhancer
- Truncating PAX6 mutations and ocular phenotypes is associated with aniridia
- Two sequence variations in PAX6 gene. These missense mutations may uniquely alter structure and expression of PAX6 protein, resulting in distinct clinical phenotypes.
- This review describes how cross regulation for PAX6, SOX2 and perhaps OTX2 has now been uncovered, pointing to the mechanisms that can fine-tune the expression of three such essential components in eye development.
- Four novel mutations including c.141+1G>A, c.184-3C>G, c.542C>A (Ser181X), and c.562C>T (Gln188X) and one known mutation c.120C>A (Cys40X) were identified in PAX6 of five unrelated patients with aniridia.
- New deletions and an insertion create frameshifts predicted to introduce premature termination codons into the PAX6 reading frame. The genetic alterations are predicted to lead to loss-of-function mutations segregating in autosomal dominant manner.
- potential effect of the PAX6 mutation on the mtDNA mutation rate
- To our knowledge, this is the first mutation of PAX6 gene reported in association with a Gillespie-like syndrome.
- the proliferation of cortical progenitors is sensitive to altered Pax6 levels
- PAX6 over-expression in low PAX6-expressing glioma cells attenuated recovery of growth after detachment-induced stress, and intracellular reactive oxygen species levels increased following cell detachment.
- We identified three mutations associated with aniridia phenotypes (Q179X, C40X, and V48fsX53). The three other mutations reported here cause non-aniridia ocular phenotypes associated in some cases with neurological anomalies.
- Finds children with PAX6 mutations may have auditory interhemispheric transfer deficits and difficulty localizing sound and understanding speech in noisy backgrounds even when there is a normal audiogram.
- PAX6 point mutations and deletions can cause aniridia.
- Screening of PAX6 in patients with suspected Gillespie syndrome should be performed with up-to-date methodology.
- A significant fraction of familial aniridia patients appears to be caused by a 3' deletion to PAX6.
- Two novel mutations in PAX6 are capable of causing the classic aniridia phenotype. PAX6 plays a role in hereditary aniridia.
- PAX6 mutation, particularly predicted haploinsufficiency, may be associated with extreme refractive error.
- PAX6 and SOX2 are obvious candidates in RE genetic studies because of their biological roles and prior linkage studies. The present findings strongly suggest refractive error is not directly affected in this population by variants in either gene.
- Pax-6 and c-Maf interact with G1 to activate basal expression of the glucagon gene
- Pax6 is strongly expressed in the embryonic and postnatal olfactory systems, and regulates neuronal specification, migration and differentiation.
- Strongly expressed in dorsal and ventral proliferative zones, mainly in proliferating radial glia (RG) cells, neuronal and intermediate progenitors, and sporadic deep cortical plate neurons; has a critical role in neurogenic regulation of RG cells.
- methylated PAX6- or TPEF-promoters could represent biomarkers for bladder cancer.
- 67 of 71 aniridia cases (94%) undergoing full mutation analysis had a mutation in the PAX6 genomic region.
- These four cases provide evidence for genetic heterogeneity in aniridia. In aniridic patients without a PAX6 mutation, vision seems to be relatively well preserved.
- The tumor suppressor role of PAX6 in human gliomas is not due to mutation in its coding and regulating regions.
- the tumor suppressor role of PAX6, reported in previous studies on gliomas, is not due to mutation in its coding and regulating regions, suggesting the involvement of epigenetic mechanisms in the silencing of PAX6 in these tumors
- The anterior and posterior segment anomalies suggested that the nystagmus was secondary to a panocular disorder with PAX6 as a candidate causative gene.
- A novel de novo frameshift mutation in PAX6, which presumably occurred in the paternal gamete, was found in a family with autosomal dominant aniridia.
- The genetic analysis suggests that the novel mutation in the PAX6 gene may be the cause of the classical aniridia phenotype.
- Pax6 has multiple functions in the developing central nervous system and in postnatal neurogenesis.
- PAX6 sequence changes in both families segregated with the anterior segment phenotype and were not observed in controls. Both mutations occur in the paired domain of the PAX6 gene.
- Pax6 is a multifunctional player regulating proliferation and differentiation through the control of expression of different downstream molecules in a highly context-dependent manner [review]
- concomitant expression of Pax6 and Pdx1 is important for glucose-dependent insulinotropic polypeptide expression
- Pax6 increases neurogenesis from human fetal striatal neural stem cells; these cells retain a specific neuronal fate consistent with their region of origin.
- PAX6 haploinsufficiency, the major cause of classic hereditary aniridia worldwide, is also associated with the phenotype in two different families from the Arabian Peninsula.
- This study adds four novel mutations to the worldwide PAX6 mutational spectrum.
- These data support recent reports that EMX2 but not PAX6 is more directly involved in arealization, highlighting that analysis of human development allows better spatio-temporal resolution than studies in rodents.
- This study demonstrates the association of PAX6 variants with susceptibility to high myopia. The PAX6 locus may contain polymorphisms playing a role in high myopia in southern Han Chinese.