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Validated All-in-One™ qPCR Primer for ABCB11(NM_003742.2) Search again
Product ID:
HQP021388
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Gene Description:
ATP binding cassette subfamily B member 11
Target Gene Accession:
NM_003742.2(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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq].
Gene References into function
- P-gp is monomeric in both the presence and absence of detergents
- P-gp is not functionally expressed or active in monocyte-derived dendritic cells in vitro, compared to MRP.
- responsible for a subgroup of infants and children with progressive familial cholestasis (OFIC-2)
- Data suggest that P-gp expression in tumor cells are related to drug resistance in epithelial ovarian cancer.
- p38(MAPK) regulates BSEP trafficking from Golgi to canalicular membrane, and Golgi may serve as BSEP pool in certain forms of cholestasis or when p38(MAPK) activity is inhibited. Activation of p38(MAPK) can recruit Golgi-associated BSEP.
- Data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of primary biliary cirrhosis and primary sclerosing cholangitis.
- HAX-1 binds bile salt export protein (BSEP), cortactin, MDR1, and MDR2. HAX-1 and cortactin regulate BSEP abundance in the apical membrane of cells.
- Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, we propose that this disorder be named BRIC type 2.
- studies provide evidence that farnesoid X-receptor(FXR) directly recruits specific chromatin modifying activity of co-activator-associated arginine methyltransferase 1 (CARM1) necessary for full potentiation of bile salt export pump (BSEP) locus in vivo
- PFIC2 mutations E297G and D482G result in impaired membrane trafficking, whereas the transport functions of these mutants remain largely unchanged.
- Functional characterization of novel ABCB11 mutations encountered in two patients with intrahepatic cholestasis.
- Functional characterization of novel ABCB11 mutations encountered in two patients with intrahepatic cholestasis.
- An "in vitro" high-speed screening method followed by QSAR analysis was developped to investigate ABCB11-drugs interactions and predict compounds with a risk of drug-induced intrahepatic cholestasis.
- PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children. Immunohistochemical evidence of BSEP deficiency correlates well with demonstrable mutation in ABCB11.
- The common BSEP polymorphism V444A accounts for the reduced canalicular BSEP expression.
- The gallstone trait is not allelic to progressive familial cholestasis at the ABCB11 locus.
- role of ABCB11 mutations and polymorphisms in drug-induced cholestasis.
- role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis
- The bile salt export pump (BSEP) is responsible for the canalicular secretion of bile acids.
- BSEP deficiency confers risk of hepatobiliary malignancy. Close surveillance of BSEP-deficient patients retaining their native liver, particularly those carrying 2 null mutations, is essential.
- Genetic Polymorphisms of the G6PC2 gene may underlie variation in fasting blood glucose levels, and genetic Polymorphisms of the ABCB11 gene may also contribute to such variation.
- dysfunction, and impaired adaptive responses of several of the bile acid transporters, e.g. BSEP and ASBT, results in liver and intestinal disease
- Results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to ABCB11 deficiency.