Recombinant Human ATP-binding cassette sub-family G member 8(ABCG8)

Code CSB-CF875651HU
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Source in vitro E.coli expression system
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Product Details

Target Names ABCG8
Uniprot No. Q9H221
Alternative Names ABCG8; ATP-binding cassette sub-family G member 8; Sterolin-2
Species Homo sapiens (Human)
Expression Region 1-673
Target Protein Sequence MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV SLRFIKQKPSQDW
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 the dietary 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 ABCG5 has ATPase activity.
Gene References into Functions
  1. we identified a novel mutation in the ABCG8 gene, which in the homozygous form was associated with generalized xanthomatosis, and in the heterozygous form was associated with isolated xanthelasmas PMID: 28739549
  2. Case Reports: compound heterozygous for nonsense mutations in ABCG8 responsible for sitosterolemia. PMID: 28521186
  3. ABCG8 genetic variants may have role in the development of cholelithiasis in patients with Gaucher disease type 1. PMID: 27981300
  4. Genetic polymorphism within the ABCG8 gene is a risk factor for diabetes. PMID: 26088706
  5. A polymorphism of the sterol transporter ABCG8 has been associated with the prevalence of end-stage renal disease PMID: 25804128
  6. Mutation in ABCG8 is associated with sitosterolaemia. PMID: 25056759
  7. A single nucleotide polymorphism of ABCG8 is associated with fasting plasma glucose levels in a cross-sectional study but do not predict hyperglycemia or incident type 2 diabetes. [meta-analysis] PMID: 23840693
  8. The evolutionary conserved region of ABCG8 were found to be responsive to the Liver-X-Receptor. PMID: 23790976
  9. Recurrence of gallstones after cholecystectomy is associated with ABCG8 genotype. PMID: 22869156
  10. ABCG8 (and ABO) variants are associated with high intestinal cholesterol absorption and cardiovascular disease. PMID: 23707316
  11. Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption. PMID: 23406058
  12. ABCG8-D19H variant associated with cholesterol gallstone disease PMID: 22898925
  13. G574R variant is associated with moderately elevated plant sterol levels in Old Order Amish. Carriers of the 574R allele had modestly lower levels of carotid wall thickness compared with noncarriers. PMID: 23241408
  14. The ABCG8 rs4148217 SNP is associated with serum TG, HDL-C and ApoA1 levels in our study populations, but this association is different between the Mulao and Han populations. PMID: 22548731
  15. Data suggest that ABCG8 S107X heterozygous mutation affects plasma phytosterol levels but not cholesterol metabolism (i.e., intestinal absorption, biosynthesis). Mutation affects efficacy of phytosterols supplementation on cholesterol absorption. PMID: 22378727
  16. ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer. PMID: 21274884
  17. In the present study, we observed a highly significant association of the ABCG8 DH genotype and H allele with gallstone susceptibility in the northern Indian population. PMID: 21039838
  18. Associations of 4 common ABCG8 polymorphisms (D19H, Y54C, T400K, and A632V)with ischemic stroke and coronary artery disease were sought. There was a tendency toward reduced 54YY-genotype frequency among male patients under 50 years of age with stroke. PMID: 20854103
  19. ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer PMID: 21062971
  20. A systematic review and meta-analysis of ABCG8 polymorphisms and association with markers of cholesterol metabolism. PMID: 20581104
  21. Common variants in ABCG8 and ABO are strongly associated with serum phytosterol levels and show concordant and previously unknown associations with coronary heart disease. PMID: 20529992
  22. For the ABCG8 gene, the rs4148211 polymorphism was associated with higher plasma total cholesterol and LDLcholesterol concentrations in the total population. PMID: 20170916
  23. Genetic variant 19H of ABCG8 is associated with coronary artery disease. PMID: 20592455
  24. SNP D19H, but not SNP T400K, in the ABCG8 gene is significantly associated with GSD in an Indian population. PMID: 20594224
  25. Twins carrying a heterozygous or homozygous ABCG8 D19H genotype have a significantly increased risk of gallstone disease. PMID: 20497293
  26. strong association of sequence variants of HMGCR, SREBF1 and ABCG8 genes with the reduction of LDL-C after statin treatment in a Chinese population PMID: 20235787
  27. Common DNA sequence polymorphisms in the ABCG8 gene contribute to heritable variation in the plasma concentrations of the plant sterols campesterol and sitosterol. PMID: 11893785
  28. In a sitosterolemia patient a novel heterozygous mutation has been found in exon 5 of ABCG8 (c.584T>A; Leu195Gln). PMID: 12124998
  29. 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. PMID: 15311998
  30. These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males. PMID: 17612515
  31. 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. PMID: 17626266
  32. 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. PMID: 17632509
  33. Single nucleotide polymorphisms in ABCG8 are associated with changes in cholesterol metabolism during weight loss PMID: 17827468
  34. 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. PMID: 18007013
  35. links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) PMID: 18522623
  36. Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease. PMID: 18581044
  37. Genetic variation in the ABCG8 gene may influence the burden of atherosclerosis in familial hypercholesteremia. PMID: 18977479
  38. The DH genotype and the H allele of the ABCG8 D19H polymorphism are associated with Gallbladder cancer susceptibility. PMID: 19018975
  39. Insulin resistance elevates ABCG8 and increases susceptibility to cholesterol gallstones PMID: 19306529

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Involvement in disease Gallbladder disease 4 (GBD4); 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 Predominantly expressed in the liver. Low expression levels in the small intestine and colon. Very low levels in other tissues, including brain, heart and spleen.
Database Links

HGNC: 13887

OMIM: 210250

KEGG: hsa:64241

STRING: 9606.ENSP00000272286

UniGene: Hs.413931

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