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ABCB6 Antibody

  • 货号：
    CSB-PA001052GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NP58
  • 基因名：
  • 别名：
    ABC antibody; ABC transporter umat antibody; ABC14 antibody; Abcb6 antibody; ABCB6_HUMAN antibody; ATP binding cassette sub family B member 6; mitochondrial precursor antibody; ATP binding cassette; sub family B (MDR/TAP); member 6 antibody; ATP-binding cassette half-transporter antibody; ATP-binding cassette sub-family B member 6 antibody; ATP-binding cassette sub-family B member 6; mitochondrial antibody; DUH3 antibody; LAN antibody; MCOPCB7 antibody; Mitochondrial ABC transporter 3 antibody; mitochondrial antibody; Mt ABC transporter 3 antibody; Mt-ABC transporter 3 antibody; MTABC3 antibody; P glycoprotein related protein antibody; P-glycoprotein-related protein antibody; PRP antibody; Ubiquitously expressed mammalian ABC half transporter antibody; Ubiquitously-expressed mammalian ABC half transporter antibody; UMAT antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human ABCB6
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen. May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turn may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydrazine stress. May also play a key role in the early steps of melanogenesis producing PMEL amyloid fibrils. In vitro, it confers to cells a resistance to toxic metal such as arsenic and cadmium and against chemotherapeutics agent such as 5-fluorouracil, SN-38 and vincristin. In addition may play a role in the transition metal homeostasis.
  • 基因功能参考文献：
    1. Severely affected porphyria patients harbor variant alleles in the ABCB6 gene. PMID: 27507172
    2. ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux. PMID: 27151991
    3. genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought. PMID: 25360778
    4. These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions. PMID: 25573285
    5. Identified two novel ABCB6 mutations in two Chinese families affected with dyschromatosis universalis hereditaria (DUH), underscoring the causative role of the ABCB6 mutations in the molecular pathogenesis of DUH. PMID: 25288164
    6. Data suggest N-terminal transmembrane domain of ABCB6 functions as independent folding unit and plays crucial role in lysosomal (rather than plasma membrane) targeting of ABCB6; this domain is dispensable for dimerization and ATP binding/hydrolysis. PMID: 25627919
    7. a heterozygous substitution Arg723Gln in the ATP-binding cassette, Subfamily B, Member 6 protein that segregated with FP in the Cardiff family and was also present in both blood donors. Arg723Gln is listed in human variation databases PMID: 24947683
    8. Data indicate ATP-binding cassette sub-family B member 6 (ABCB6) as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the dyschromatosis universalis hereditaria phenotype. PMID: 24498303
    9. Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine. PMID: 25202056
    10. We describe eight new mutations in ABCB6 of which seven, including three missense mutations, underlie the Lan- phenotype and determine that a complete gene deletion of ABCG2 or ABCB6 is not responsible for the Jr(a-) or Lan- phenotype, respectively. PMID: 24456066
    11. High expression levels of ABCB6 are associated with glioma. PMID: 22688660
    12. data add new variants to the repertoire of ABCB6 mutations with dyschromatosis universalis hereditaria. PMID: 24224009
    13. No significant associations were detected for the ABCB6 or ABCG1 gene. PMID: 24192121
    14. Data suggest that expression of ABCB6 varies widely in bone marrow and blood samples from patients with acute myeloid leukemia. [LETTER] PMID: 23793916
    15. To date, 19 ABCB6 alleles that encode Lan- or Lan+(w) /-, or Lan+(w) phenotypes have been described. PMID: 23763549
    16. p.Arg192Trp is the first ABCB6 missense mutation causing the Lan- blood type and appears to be a relatively frequent cause of this rare blood type. PMID: 22958180
    17. Aberrant mRNA and DNA methylation levels of ABCB6 may serve as useful predictive biomarkers for early intrahepatic recurrence of HCV-related hepatocellular carcinoma PMID: 23483087
    18. These findings suggest that ABCB6 may be a physiological factor for skin pigmentation. PMID: 23519333
    19. results suggest a direct interaction between mitochondrial ABCB6 and its transport substrates that is critical for the activity of the transporter PMID: 23792964
    20. the two missense mutations in residue 375 of the ABCB6 polypeptide found in affected individuals of families with chromosome 2-linked FP could contribute to the red cell K(+) leak characteristic of this condition. PMID: 23180570
    21. Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter ABCB6 gene via the aryl hydrocarbon receptor (AhR) PMID: 22761424
    22. Knock-down studies demonstrate that ABCB6 function is not required for de novo heme biosynthesis in differentiating K562 cells, excluding this ABC transporter as a key regulator of porphyrin synthesis. PMID: 22655043
    23. ABCB6 plays a role in cell growth and proliferation by targeting the cell cycle. PMID: 21849266
    24. It was established that ABCB6 encodes a new blood group system (Langereis, Lan). Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. PMID: 22246506
    25. The results demonstrated that ABCB6 mutations cause ocular coloboma. PMID: 22226084
    26. Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8. PMID: 21199866
    27. overall structure of ABCB6 is L-shaped and consists of two lobes, consistent with other reported nucleotide-binding domain structures PMID: 20823549
    28. study of C-terminal nucleotide-binding domain of ABCB6 in nucleotide-free & ADP-bound states by NMR & homology modelling; results revealed localised dynamic cooperativity, which was proposed for a prokaryotic ABC MJ1267, also exists in a eukaryotic ABC PMID: 16791740
    29. ABCB6 is uniquely located in the outer mitochondrial membrane and is required for mitochondrial porphyrin uptake PMID: 17006453
    30. ABCB6 exists in two molecular weight forms, is localized to both the outer mitochondrial membrane and the plasma membrane, and plays a functional role in the plasma membrane. PMID: 17661442
    31. ather, it localized in the ER-derived and brefeldin A-sensitive perinuclear compartments, mainly in the Golgi apparatus. PMID: 18279659

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  • 相关疾病：
    Microphthalmia, isolated, with coloboma, 7 (MCOPCB7); Dyschromatosis universalis hereditaria 3 (DUH3); Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Endosome membrane; Multi-pass membrane protein. Lysosome membrane. Late endosome membrane. Early endosome membrane. Secreted, extracellular exosome. Mitochondrion. Endosome, multivesicular body membrane. Melanosome membrane.
  • 蛋白家族：
    ABC transporter superfamily, ABCB family, Heavy Metal importer (TC 3.A.1.210) subfamily
  • 组织特异性：
    Widely expressed. High expression is detected in the retinal epithelium. Expressed in mature erythrocytes.
  • 数据库链接：

    HGNC: 47

    OMIM: 111600

    KEGG: hsa:10058

    STRING: 9606.ENSP00000265316

    UniGene: Hs.107911