ABCG5 Antibody

1. Case Report/Review: novel variants of the ABCG5 gene causing xanthelasmas and macrothrombocytopenia in sitosterolemia. PMID:28696550
2. Mutation-negative familial hypercholesterolemia subjects accumulate an excess of rare and common gene variations in ABCG5/G8 genes PMID:29066094
3. Case Reports: compound heterozygous for nonsense mutations in ABCG5 responsible for sitosterolemia. PMID:28521186
4. ABCG5 gene variants were not associated with cholelithiasis in patients with Gaucher disease type 1. PMID:27981300
5. Genetic variations in ABCG5, CYP7A1, and DHCR7 may contribute to differing responses of serum cholesterol to dairy intake among healthy adults. PMID:27052530
6. ABCG5 Gene Variants are associated with Sitosterolemia and Familial Mediterranean Fever. PMID:27170062
7. first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations PMID:26892138
8. Genetic polymorphism within the ABCG5 gene is a risk factor for diabetes. PMID:26088706
9. crystallization in lipid bilayers to determine the X-ray structure of human G5G8 in a nucleotide-free state at 3.9 A resolution, generating the first atomic model of an ABC sterol transporter PMID:27144356
10. ATP-binding cassette (ABC) transporters G5 (ABCG5) and G8 (ABCG8) form an obligate heterodimer that limits intestinal absorption and facilitates biliary secretion of cholesterol and phytosterols. PMID:24252657
11. ABCG5/8 variants are associated with susceptibility to coronary heart disease. PMID:24691589
12. Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL have been linked to lipid levels and gallstone disease PMID:24811295
13. HRD1 and RMA1 may therefore be negative regulators of disease-associated transporter ABCG5/ABCG8. PMID:24584735
14. No association of T400K and Y54C polymorphism with hepatic ABCG8/G5 mRNA expression. PMID:24498041
15. MI and gallstones, 2 seemingly unrelated diseases, are intrinsically linked via the function of the ABCG5/8 cholesterol transporter. PMID:24657701
16. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. PMID:24623560
17. The evolutionary conserved region of ABCG5 were found to be responsive to the Liver-X-Receptor. PMID:23790976
18. ABCG5-R50C variant associated with cholesterol gallstone disease PMID:22898925
19. The sterol transporters ABCA1, ABCG5, and ABCG8 may play a role in the pathogenesis of human cholesterol related gallbladder diseases. PMID:23179156
20. The associations of four ABCG5/G8 single nucleotide polymorphisms and serum lipid levels are different between the Mulao and Han populations in China, or between males and females. PMID:22655090
21. A systematic review and meta-analysis of ABCG5 polymorphisms and association with markers of cholesterol metabolism. PMID:20581104
22. The effects of ABCG5/G8 polymorphisms on HDL-cholesterol concentrations depend on ABCA1 genetic variants. PMID:19692220
23. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia PMID:20172523
24. an ABCG5-G8 haplotype, which included the rs6544718 T allele, was associated with higher HDLcholesterol plasma concentrations in women. PMID:20170916
25. five Chinese children from four separate families presented with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene PMID:20521169
26. Bile acids may promote an active conformation of purified ABCG5/G8 either by global stabilization of the transporter or by binding to a specific site on ABCG5/G8. PMID:20210363
27. ABCG5/G8 polymorphisms are not associated with reduction of serum lipids by soy or dietary fiber in hyperlipidemic Mexican subjects PMID:19917453
28. mutations in ATP-binding cassette proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia PMID:11668628
29. New mutations - R419H and IVS12+1G -->A. (Latter is splice site mutation.) PMID:11855938
30. In a sitosterolemia patient a novel heterozygous mutation has been found in exon 8 of the ABCG5 gene leading to a premature termination of the protein (Arg408Ter). PMID:12124998
31. several potential regulatory elements were found for the ABCG5 and ABCG8 genes, and the intergenic region was found to act as a bidirectional promoter PMID:12150943
32. Role of ABCG5 and ABCG8 in cholesterol secretion and absorption PMID:12208868
33. ABCG5 and ABCG8 function as obligate heterodimers to promote sterol excretion into bile PMID:14504269
34. in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy PMID:14703505
35. LRH-1 is a positive transcription factor for ABCG5 and ABCG8 and, in conjunction with studies on LRH-1 activation of other promoters, identify LRH-1 as a "master regulator" for genes involved in sterol and bile acid secretion from liver and intestine PMID:15121760
36. ABCGG5 and ABCG8 are required to modulate biliary cholesterol secretion in response to cholate and diosgenin. PMID:15611112
37. 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 PMID:15930516
38. Strong relationship between ABCG5 and ABCG8 gene expression is consistent with the coordinate regulation of both genes and in line with heterodimerization of both proteins into a functional transporter. PMID:16250035
39. Two genes, ABCG5 and ABCG8, compose the sitosterolemia locus, and complete mutation in either, but not both, results in disease. PMID:16472606
40. In diabetic patients statin therapy is associated wiwth increased mRNA. PMID:16518588
41. ABCG5 polymorphism may play a role in the plasma response to dietary cholesterol and carotenoids. PMID:16614398
42. 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. PMID:16893193
43. Polymorphisms at the half-transporter ABCG5 and ABCG8 genes affect blood cholesterol concentrations in prepubertal children by influencing dietary responsiveness. PMID:16980816
44. biochemical and functional characterization of the ABCG5/ABCG8 proteins and their possible involvement in steroid hormone transport or regulation. PMID:17055487
45. Increased NPC1L1 and lower ABCG5 abd ABCG8 may lead to increased cholesterol and sitosterol in chylomicron particles in diabetic patients. PMID:17102949
46. Cooperative interaction between HNF4A and GATA4 and GATA6 regulates ABCG5 and ABCG8. PMID:17403900
47. results indicate that ABCG5/G8, unlike ABCA1, together with bile acids should participate in sterol efflux on the apical surface of Caco-2 cells. PMID:17690481
48. changes in cholesterol metabolism after weight loss were affected by single nucleotide polymorphisms (SNPs) in ABCG5 PMID:17827468
49. Upregulation of ABCG5/ABCG8 in gallstone patients, possibly mediated by increased liver X receptor (LXR) alpha, may contribute to the cholesterol supersaturation of bile, a prerequisite for gallstone formation. PMID:18007013
50. Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. PMID:18457353

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HGNC: 13886

UNIGENE: Hs.132992

KEGG: hsa:64240

STRING: 9606.ENSP00000260645

OMIM: 210250