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Validated All-in-One™ qPCR Primer for ABCA4(NM_000350.2) Search again
Product ID:
HQP006441
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ABC10, ABCR, ARMD2, CORD3, FFM, RMP, RP19, STGD, STGD1
Gene Description:
ATP binding cassette subfamily A member 4
Target Gene Accession:
NM_000350.2(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
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2.
Gene References into function
- The nucleotide binding domain 1 (NBD1) of the retina-specific ATP-binding cassette transporter is a general ribonucleotidase capable of binding ATP, CTP, GTP and UTP.
- Of the 21 missense ABCR mutations reported in patients with AMD, 16 (76%) show abnormalities in protein expression, ATP-binding or ATPase activity.
- Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration
- The ABCA4 2588G>C Stargardt mutation
- Three novel ABCA4 gene mutations were identified in Japanese patients with STGD and arRP.
- Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM).
- The ABCA4 gene in autosomal recessive cone-rod dystrophies
- ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases.
- genomic deletion in patients with Stargardt disease: genomic alterations contribute to only a small fraction of retinopathy-associated alleles
- Patients with autosomal recessive cone-rod dystrophy are likely to harbor a mutation in the ABCA4 gene as the cause of their disease.
- This study confirmed the very high degree of ABCA4 sequence polymorphism in the general population
- nucleotide binding and ATPase activities of the N and C halves of ABCR individually and co-expressed
- A homozygous nonsense mutation 2971G>T (G991X) was detected in a patient diagnosed with cone-rod dystrophy.
- a pilot study by analyzing 8 exudative ARMD patients for allelic variations in the GPX gene and three statistically significant mutations in the ABCR gene (R943Q, G1961E and D2177N)
- ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases.
- These data indicate that changes in the oligomeric state of the nucleotide binding domains of ABCR are coupled to ATP hydrolysis and might represent a possible signal for the TMDs of ABCR to export the bound substrate.
- Homozygous null mutations in ABCA4 produced a severe widespread retinal degeneration that showed marked central retinal involvement.
- ABCA4 splicing mutations may be associated with a small proportion of AMD (Age-related macular degeneration) cases.
- a new 6730-16del44 deletion is the first de novo mutation associated with cone-rod dystrophy and may contribute to a better understanding of the role of ABCA4 mutations in macular dystrophies [case report]
- Major disease-associated allele, R1129L, which accounted for 24% of the mutated alleles detected, and a high frequency (12%) of complex alleles.
- In the population studied, ABCA4 plays an important role in the pathogenesis of autosomal recessive cone-rod dystrophy . However, mutations in this gene are less frequently identified in other retinal dystrophies.
- Genotype-phenotype correlation of ABCA4, show that homozygosity for the novel c.4254-15del23 splicing mutation is associated with a severe progressive form of Stargardt-like disease.
- Finding a high proportion of novel mutations merits the use of scanning methodologies to analyze the whole coding region of the ABCA4 gene.
- ABCA4 mutation spectrum within relatively stable populations might be skewed due to founder effects. Patients either homozygous or compound heterozygous for N965S mutation show that this mutation has early and profound effect on retinal function.
- We report the unusual association of a retinal astrocytic hamartoma and Stargardt's disease in a patient with ABCR mutation.
- Variations in the ABCA4 gene are common in bull's-eye maculopathy.
- Stargardt's disease is caused by mutations in the ABCR (ABCA4) gene on chromosome 1.
- Disease-associated ABCA4 alleles were identified in 20 of 64 patients with autosomal recessive cone (arCD) and cone rod dystrophy (arCRD).
- Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family.
- Data show that photoreceptor cell-specific ATP-binding cassette transporter (ABCA4) gene was found to be mutated in patients with Stargardt disease (STGD) and autosomal recessive retinitis pigmentosa (RP).
- associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite