Recombinant Human Williams-Beuren syndrome chromosomal region 16 protein (WBSCR16)
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中文名稱：人RCC1L重組蛋白
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貨號：CSB-EP836228HU-B
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說明書：
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規格：
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來源：E.coli
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共軛：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.
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其他：
產品詳情
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純度：>85% (SDS-PAGE)
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基因名：RCC1L
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Uniprot No.：
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別名：5730496C04Rik; AU019812; DKFZp434D0421; MGC189739; MGC44931; RCC1-like G exchanging factor-like protein; WBS16_HUMAN; Wbscr16; Williams-Beuren syndrome chromosomal region 16 protein
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種屬：Homo sapiens (Human)
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蛋白長度：full length protein
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表達區域：1-464
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氨基酸序列MALVALVAGA RLGRRLSGPG LGRGHWTAAR RSRSRREAAE AEAEVPVVQY VGERAARADR VFVWGFSFSG ALGVPSFVVP SSGPGPRAGA RPRRRIQPVP YRLELDQKIS SAACGYGFTL LSSKTADVTK VWGMGLNKDS QLGFHRSRKD KTRGYEYVLE PSPVSLPLDR PQETRVLQVS CGRAHSLVLT DREGVFSMGN NSYGQCGRKV VENEIYSESH RVHRMQDFDG QVVQVACGQD HSLFLTDKGE VYSCGWGADG QTGLGHYNIT SSPTKLGGDL AGVNVIQVAT YGDCCLAVSA DGGLFGWGNS EYLQLASVTD STQVNVPRCL HFSGVGKVRQ AACGGTGCAV LNGEGHVFVW GYGILGKGPN LVESAVPEMI PPTLFGLTEF NPEIQVSRIR CGLSHFAALT NKGELFVWGK NIRGCLGIGR LEDQYFPWRV TMPGEPVDVA CGVDHMVTLA KSFI
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蛋白標簽：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. -
產品提供形式：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. -
復溶：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.
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儲存條件：Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
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保質期：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. -
貨期：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.
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注意事項：Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Datasheet ：Please contact us to get it.
產品評價
相關產品
靶點詳情
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功能：Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.
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基因功能參考文獻：
- Using X-ray crystallography, established the structure of human Williams-Beuren Syndrome Chromosomal Region 16 (WBSCR16), and showed that WBSCR16 has seven-bladed b-propeller fold (the RCC1 fold) with unique surface features. PMID: 28608466
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相關疾?。?/div>WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.亞細胞定位：Mitochondrion membrane. Mitochondrion inner membrane.組織特異性：Ubiquitous.數據庫鏈接：
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