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Validated All-in-One™ qPCR Primer for RECQL4(NM_004260.3) Search again
Product ID:
HQP022676
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
RECQ4
Gene Description:
RecQ like helicase 4
Target Gene Accession:
NM_004260.3(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.
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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Gene References into function
- The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with Rothmund-Thomson syndrome who has a novel 11-bp intronic deletion; this mutation results in a 66-bp intron too small for proper splicing.
- Two novel exonic single nucleotiude polymorphisms and a minisatellite repeat are characterized.
- RECQL4 mutations were not found in poikiloderma with neutropenia in Navajo and non-Navajo patients
- RECQL4 gene is not a frequent target for somatic mutations in sporadic osteosarcoma.
- RECQL4 from HeLa cells interacts with ubiquitin ligases UBR1 and UBR2.
- The human diseases connected with RECQL4 mutations appear distinct in their clinical phenotypes from Bloom or Werner's symdrome.
- Baller-Gerold syndrome (BGS) in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome.
- Findings suggest a role for RECQL4 in the repair of DNA double-strand breaks by homologous recombination and shed new light onto RECQL4's function in human cells.
- RECQ4 lacks a detectable DNA helicase activity and is mutated in Rothmund-Thomson syndrome
- It is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with.
- These results suggest that enhanced oxidant sensitivity in RECQL4 deficient fibroblasts derived from RTS patients could be attributed to abnormal DNA metabolism and proliferation failure.
- These results demonstrate changes in the intracellular localization of RECQL4 in response to oxidative stress and identify an interaction between RECQL4 and PARP-1
- RecQL4 may have a unique role in replication fork arrest.
- A greater role for the RECQL4 protein in DNA replication as opposed to repair of exogenous damage.
- RECQL4 polymorphisms and mutations are associated with Rothmund-Thomson Syndrome.
- genotype-phenotype analysis showed a significant correlation between RECQL4 mutational status and the presence of skeletal abnormalities (p < 0.0001) in Rothmund-Thomson syndrome patients
- RecQ4 has a role in the repair of UV-induced DNA damages in human cells
- Study reports that RAPADILINO patients identified as carriers of the c.1390+2delT mutation (p.Ala420_Ala463del) are at increased risk to develop lymphoma or osteosarcoma (6 out of 15 patients).
- RECQ4 exhibits DNA helicase activity. Importantly, two distinct regions of the protein, the conserved helicase motifs and the Sld2-like N-terminal domain, each independently promote ATP-dependent DNA unwinding.