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Validated All-in-One™ qPCR Primer for FOXC1(NM_001453.2) Search again
Product ID:
HQP005629
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
Gene Description:
forkhead box C1
Target Gene Accession:
NM_001453.2(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.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq].
Gene References into function
- Four different FOXC1 mutations were found in four of six Japanese pedigrees with Axenfeld-Rieger syndrome.
- FOXC1 is under complex regulatory control with multiple functional domains modulating FOXC1 transcriptional regulation.
- none of the families had a detectable FOXC1 mutation.
- FOXC1 functions as a tumor suppressor through TGF-beta1 mediated signals.
- Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
- Significant genetic heterogeneity of FOXC1 was observed in a multi-ethnic population studied in this region of India resulting in variable ARA phenotypes.
- This report confirms that Rieger syndrome (with dental and facial abnormalities) can be caused by a mutation in FOXC1. It is also the first report of Peters anomaly being caused by a FOXC1 mutation.
- Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1 were performed.
- A novel mutation in helix 1 of the FOXC1 forkhead domain has been identified and the importance of position 86 in FOXC1 activity demonstrated.
- Determination of amino acids within the forkhead domain of FOXC1 that are important for FOXC1 function.
- in Axenfeld-Rieger anomaly, a T-->C transition, is predicted to result in a change of isoleucine to threonine (Ile9lThr) in a highly conserved location within the first helix of the forkhead domain.
- Functional interaction between FOXC1 and PITX2A underlies the sensitivity to FOXC1 gene dosage in Axenfeld-Rieger syndrome and related anterior segment dysgeneses.
- FOXC1 protein levels and activity are tightly regulated by post-translational modifications
- The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively.
- The findings in the present study clearly demonstrate that FOXC1 and PITX2 mutations are responsible for a significant proportion of Axenfeld-Rieger malformations in Germany.
- these data implicate specific members of the FOX family of TFs (FOXC1, C2, P1, P4, and O1A) not previously suggested in heart failure pathogenesis.
- This study reveals an important role for FOXC1 in the direct regulation of the FGF19-FGFR4-MAPK pathway to promote both the development and maintenance of anterior segment structures within the eye.
- A patient is described with a 6pter deletion detected by SNP genotyping and DNA probes involving the FOXC1 gene.
- Patients with FOXC1 mutations have the mildest prognosis for glaucoma development, whereas patients with PITX2 defects and patients with FOXC1 duplication have a more severe prognosis for glaucoma development than do patients with FOXC1 mutations.
- PITX2, BARX1, and FOXC1 mutations were absent in De Hauwere syndrome and suggest that De Hauwere syndrome is caused by a different gene.
- In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis.
- Novel mutation in Helix1 and novel deletion in Wing1 and Beta2 of forkhead domain of FOXC1 gene have been identified in two families with Axenfeld-Rieger syndrome.
- FOXC1 regulates the expression of FOXO1A and binds to a conserved element in the FOXO1A promoter
- Heterozygous FOXC1 mutation is associated with congenital glaucoma and aniridia
- the role of FOXC1 mutations in the spectrum of anterior segment dysgenesis .
- Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations.
- The present study indicates a limited role of FOXC1 in primary congenital glaucoma pathogenesis.