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

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

  • 货号：
    CSB-CF875651HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
  • Uniprot No.：
  • 别名：
    ABCG8; ATP-binding cassette sub-family G member 8; Sterolin-2
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-673
  • 氨基酸序列
    MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLAS QVPWFEQLAQFKMPWTSPSCQNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITG RGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPNLTVRETLAFIAQMRLPRTFS QAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHM VQYFTAIGYPCPRYSNPADFYVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFL WKAETKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFTTLIRRQISNDFRDLPTLLIH GAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVF CCRIMALAAAALLPTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCF EGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLYAIYLIVIGLSGGFMVLYYV SLRFIKQKPSQDW
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Gallbladder disease 4 (GBD4); Sitosterolemia (STSL)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    ABC transporter superfamily, ABCG family, Eye pigment precursor importer (TC 3.A.1.204) subfamily
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 13887

    OMIM: 210250

    KEGG: hsa:64241

    STRING: 9606.ENSP00000272286

    UniGene: Hs.413931