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Validated All-in-One™ qPCR Primer for ABCG8(NM_022437.2) Search again
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:
Summary
The 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq].
Gene References into function
- mutations in ATP-binding cassette proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
- Common DNA sequence polymorphisms in the ABCG8 gene contribute to heritable variation in the plasma concentrations of the plant sterols campesterol and sitosterol.
- In a sitosterolemia patient a novel heterozygous mutation has been found in exon 5 of ABCG8 (c.584T>A; Leu195Gln).
- several potential regulatory elements were found for the ABCG5 and ABCG8 genes, and the intergenic region was found to act as a bidirectional promoter
- Role of ABCG5 and ABCG8 in cholesterol secretion and absorption
- ABCG5 and ABCG8 function as obligate heterodimers to promote sterol excretion into bile
- in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy
- Genetic variations in the ABCG8 gene may play a role in the genetic determination of plasma cholesterol levels and could possibly influence the gender-specific response of plasma cholesterol levels after dietary changes.
- ABCGG5 and ABCG8 are required to modulate biliary cholesterol secretion in response to cholate and diosgenin.
- MDR2 expression is required for ABCG5- and ABCG8-mediated biliary sterol secretion. Inactivation of MDR2 markedly attenuated the reduction in fractional sterol absorption associated with ABCG5, ABCG8 overexpression
- Two genes, ABCG5 and ABCG8, compose the sitosterolemia locus, and complete mutation in either, but not both, results in disease.
- In diabetic patients statin therapy is associated wiwth increased mRNA.
- Purified ABCG5 and ABCG8 had very low ATPase activities, suggesting that the hetero-dimer is the catalytically active species, and likely the active species in vivo.
- Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness.
- biochemical and functional characterization of the ABCG5/ABCG8 proteins and their possible involvement in steroid hormone transport or regulation.
- Increased NPC1L1 and lower ABCG5 abd ABCG8 may lead to increased cholesterol and sitosterol in chylomicron particles in diabetic patients.
- Cooperative interaction between HNF4A and GATA4 and GATA6 regulates ABCG5 and ABCG8.
- These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males.
- The results of the genetic study taken together indicate that in gallstone-susceptible carriers of the ABCG8 19H allele, cholesterol cholelithiasis is secondary to increased hepatobiliary cholesterol secretion.
- An association scan of >500,000 SNPs in individuals with gallstones and controls was performed; a follow-up study of the 235 most significant SNPs in affected individuals and controls replicated the disease association of SNP A-1791411 in ABCG8.
- results indicate that ABCG5/G8, unlike ABCA1, together with bile acids should participate in sterol efflux on the apical surface of Caco-2 cells.
- Single nucleotide polymorphisms in ABCG8 are associated with changes in cholesterol metabolism during weight loss
- Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation.
- Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index.
- links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review)
- Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease.
- No common polymorphisms in ABCG8, ABCG5, or NPC1L1 were demonstrated between the 3 top responders and the non-respondersto plant sterol intervention.
- Results describe the association between ABCG5/G8 and NPC1L1 genotype single nucleotide polymorphisms with sterol absorption and corresponding plasma concentrations.
- In Chilean patients, the ABCG5 1950C>G polymorphism, but not the ABCG8 251A>G polymorphism, was found to be associated with hypercholesterolemia.
- Most Asian phytosterolemia patients possess mutations in the ABCG5 gene. The site of the novel mutation was completely different from previous reports. No other mutation was found in the ABCG5 and ABCG8 genes.
