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Validated All-in-One™ qPCR Primer for ABCB4(NM_018850.3) Search again
Product ID:
HQP158611
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Gene Description:
ATP binding cassette subfamily B member 4
Target Gene Accession:
NM_018850.3(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
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.
Gene References into function
- In addition to PFIC3, ab MDR3 defect can be involved in intrahepatic chlestasis of pregnancy and in cholesterol gallstone disease
- present data indicate that polymorphism of the estrogen receptor alpha gene and multidrug resistance 3 gene mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women
- present data indicate that polymorphism of the estrogen receptor alpha and multidrug resistance 3 genes 1712delT mutation are unlikely to play any significant role in obstetric cholestasis in affected Finnish women
- Trp(1242) substitutions markedly alter the substrate specificity of human multidrug resistance protein 3 but leave bile salt binding and transport intact
- sequence variation in women with intrahepatic cholestasis of pregnancy
- MDR3 expression is directly up-regulated by FXR in primary human hepatocytes
- Data do not support a strong role of BSEP and MDR3 genetic variations in the pathogenesis of primary biliary cirrhosis and primary sclerosing cholangitis.
- MDR3 genetic variation is associated with pregnancy-associated cholestasis
- 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.
- BF may enhance the capacity of human hepatocytes to direct PC into bile canaliculi via PPARalpha-mediated redistribution of ABCB4 to the canalicular membrane
- The suppressive effects on MDR3 mRNA of PMA were attenuated in antisense PKCbeta-treated cells, but those in antisense PKCalpha-treated cells were not attenuated. These suggested that PKCbeta plays a regulatory role in the expression of MDR3.
- mutations in the canalicular ABC transporter phospholipid flippase (MDR3) and in the bile salt export pump (BSEP) can predispose for the development of ICP.
- Variants of ABCB4 represent genetic risk factors for the severe form of ICP in Sweden.
- This study demonstrates that splicing mutations in the MDR3 gene can cause intrahepatic cholestasis of pregnancy with normal gamma-GT and may be associated with stillbirths and gallstone disease.
- role of ABCB4 mutations and polymorphisms in drug-induced cholestasis.
- ABCB4 mediates the efflux of phospholipids into the canalicular lumen in the presence of bile salts, and plays a crucial role in bile formation and lipid homeostasis.
- Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis.
- The molecular characterization of 68 Progressive familial intrahepatic cholestasis type 3 (PFIC3) screened for ABCB4 mutations to date, is reported.
- 48 mutations of MDR3 gene have been reported in humans to date, from which 43 (89.5%) in the coding region, and 5 splice site mutations have been associated to cholesterol cholelithiasis.
- MDR3 mutations are responsible for the development of intrahepatic cholestasis of pregnancy in only a small percentage of Italian women.
- Heterozygous ABCB4 mutations were detected in 34% of adults with unexplained cholestasis, for the most part without biliary symptoms, and could result in significant liver fibrosis
- The Hap 2/Hap 2 diplotype in MDR3 could therefore be potentially applied to DNA-based diagnosis in Japanese patients with primary biliary cirrhosis (PBC) as a strong genetic biomarker for predicting the progression and prognosis of PBC.
- Mutational analysis of ABCB4 should be generally considered in all patients with cholestatic liver disease of unknown etiology regardless of age and onset of disease.