Recombinant Human ATP-binding cassette sub-family G member 5(ABCG5)

Code CSB-CF863956HU
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names ABCG5
Uniprot No. Q9H222
Alternative Names ABCG5; ATP-binding cassette sub-family G member 5; Sterolin-1
Species Homo sapiens (Human)
Expression Region 1-651
Target Protein Sequence MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSC RQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRAL RREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHV ADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELAR RNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDF YMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKD SPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRV GLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATM IFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIA GVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMC AFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet Please contact us to get it.

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Target Background

Function
ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of dietary plant sterols and cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile. Required for normal sterol homeostasis. The heterodimer with ABCG8 has ATPase activity.
Gene References into Functions
  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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Involvement in disease Sitosterolemia (STSL)
Subcellular Location Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
Protein Families ABC transporter superfamily, ABCG family, Eye pigment precursor importer (TC 3.A.1.204) subfamily
Tissue Specificity Strongly expressed in the liver, lower levels in the small intestine and colon.
Database Links

HGNC: 13886

OMIM: 210250

KEGG: hsa:64240

STRING: 9606.ENSP00000260645

UniGene: Hs.132992

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