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  4. Recombinant Human Hyccin (FAM126A)

Recombinant Human Hyccin (FAM126A)

  • 货号：
    CSB-YP866318HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP866318HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP866318HU-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：
  • 货号：
    CSB-BP866318HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP866318HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    FAM126A
  • Uniprot No.：
  • 别名：
    Down regulated by Ctnnb1 a; Down regulated by CTNNB1 protein A; Down-regulated by CTNNB1 protein A; DRCTNNB1A; FAM126A; Family with sequence similarity 126 member A; HCC; HLD5; HYCC1; HYCCI_HUMAN; Hyccin; Protein FAM126A
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-521
  • 氨基酸序列
    MFTSEKGVVE EWLSEFKTLP ETSLPNYATN LKDKSSLVSS LYKVIQEPQS ELLEPVCHQL FEFYRSGEEQ LLQFTLQFLP ELIWCYLAVS ASRNVHSSGC IEALLLGVYN LEIVDKQGHT KVLSFTIPSL SKPSVYHEPS SIGSMALTES ALSQHGLSKV VYSGPHPQRE MLTAQNRFEV LTFLLLCYNA ALTYMPSVSL QSLCQICSRI CVCGYPRQHV RKYKGISSRI PVSSGFMVQM LTGIYFAFYN GEWDLAQKAL DDIIYRAQLE LYPEPLLVAN AIKASLPHGP MKSNKEGTRC IQVEITPTSS RISRNAVTSM SIRGHRWKRH GNTELTGQEE LMEISEVDEG FYSRAASSTS QSGLSNSSHN CSNKPSIGKN HRRSGGSKTG GKEKETTGES CKDHFARKQT QRAQSENLEL LSLKRLTLTT SQSLPKPSSH GLAKTAATVF SKSFEQVSGV TVPHNPSSAV GCGAGTDANR FSACSLQEEK LIYVSERTEL PMKHQSGQQR PPSISITLST D
  • 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：
    Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P. Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system. May also have a role in the beta-catenin/Lef signaling pathway (Probable).
  • 基因功能参考文献：
    1. point to a role for FAM126A in supporting myelination, an important process in development and also following acute exacerbations in multiple sclerosis PMID: 26571211
    2. A disease-associated FAM126A missense mutation causes protein accumulation in subcellular compartments. PMID: 24417797
    3. Identified two novel FAM126A mutations in three hypomyelination and congenital cataract affected members of two unrelated families. PMID: 23998934
    4. Two novel mutations in the FAM126A gene were identified in 2 unrelated families with Hypomyelination and congenital cataract PMID: 22749724
    5. Molecular analysis of 9 additional cases in this review depicts 3 novel mutations of FAM126A with clinical variability ranging from severe early-onset neurologic impairment to a milder phenotype PMID: 21911699
    6. A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family. PMID: 17928815
    7. Mutation of this gene results in defective myelination of both the central and peripheral nervous system. PMID: 16951682

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  • 相关疾病：
    Leukodystrophy, hypomyelinating, 5 (HLD5)
  • 亚细胞定位：
    Cytoplasm, cytosol. Cell membrane.
  • 蛋白家族：
    FAM126 family
  • 组织特异性：
    Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
  • 数据库链接：

    HGNC: 24587

    OMIM: 610531

    KEGG: hsa:84668

    STRING: 9606.ENSP00000403396

    UniGene: Hs.85603