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  4. Recombinant Human Limb region 1 protein homolog (LMBR1), partial

Recombinant Human Limb region 1 protein homolog (LMBR1), partial

  • 中文名称：
    人LMBR1重组蛋白
  • 货号：
    CSB-YP823891HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人LMBR1重组蛋白
  • 货号：
    CSB-EP823891HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人LMBR1重组蛋白
  • 货号：
    CSB-EP823891HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人LMBR1重组蛋白
  • 货号：
    CSB-BP823891HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人LMBR1重组蛋白
  • 货号：
    CSB-MP823891HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    LMBR1
  • Uniprot No.：
  • 别名：
    ACHP; C7orf2; DIF 14; DIF14; Differentiation related gene 14; Differentiation related gene 14 protein; Differentiation-related gene 14 protein; FLJ11665; Limb region 1 homolog (mouse); Limb region 1 homolog; Limb region 1 protein; Limb region 1 protein homolog; LMBR 1; LMBR1; LMBR1_HUMAN; OTTHUMP00000211720; PPD 2; PPD2; TPT
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 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：
    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 ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Putative membrane receptor.
  • 基因功能参考文献：
    1. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9 Mb on 7p21.1-22.1 spanning 63 genes including RAC1, another patient with severe Holt-Oram syndrome and a large de novo deletion 2.2 Mb on 12q24.13-24.21 spanning 20 genes including TBX3 and TBX5, and a third patient with acheiropodia who had a nullizygous deletion of 102 kb on 7q36.3 spanning LMBR1 PMID: 26749485
    2. A novel ZRS mutation found in the Mexican population, 402C>T, suggests that a dosage effect exists for this mutation. PMID: 24777739
    3. Data describe extensive variation in limb phenotype in a large family and report on a novel sequence variation NG_009240.1: g.106737G>T (traditional nomenclature: ZRS404G>T) in the ZRS within the LMBR1 gene. PMID: 24478176
    4. Review of the literature and cases in a Chinese family confirm genetic homogeneity (duplication of ZRS wintin intron 5 of LMBR1) of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome. PMID: 23793141
    5. report of a new point mutation within the ZRS in a family with digit malformations including triphalangeal thumb, pre-axial polydactyly and post-axial polydactyly; heterozygous C>A mutation at position 287 of the ZRS enhancer was detected in all affected subjects and is absent from four unaffected family members PMID: 22786669
    6. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. PMID: 22495965
    7. Effect on transcription factor binding of a novel ZRS point mutation (463T>G) in a Pakistani family with preaxial polydactyly and triphalangeal thumb. PMID: 20068592
    8. mutation causes preaxial polydactyly PMID: 12032320
    9. disruption is associated with preaxial polydactyly PMID: 12491086
    10. C to T transition in LMBR1 results in the dysregulation of sonic hedgehog, which leads to the triphalangeal thumb-polysyndactyly syndrome found in this case PMID: 17300748
    11. Intron 5 of LMBR1 was presumably subject to balancing selection during the evolution of modern human of various racial stocks. PMID: 18698406

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  • 相关疾病：
    Preaxial polydactyly 2 (PPD2); Acheiropody (ACHP); Syndactyly 4 (SDTY4); Hypoplasia or aplasia of tibia with polydactyly (THYP); Laurin-Sandrow syndrome (LSS)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    LIMR family
  • 组织特异性：
    Widely expressed with strongest expression in heart and pancreas.
  • 数据库链接：

    HGNC: 13243

    OMIM: 135750

    KEGG: hsa:64327

    STRING: 9606.ENSP00000326604

    UniGene: Hs.209989