在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

Recombinant Human Receptor expression-enhancing protein 1 (REEP1)

  • 中文名稱:
    人REEP1重組蛋白
  • 貨號:
    CSB-CF862045HU
  • 規格:
  • 來源:
    in vitro E.coli expression system
  • 其他:

產品詳情

  • 基因名:
    REEP1
  • Uniprot No.:
  • 別名:
    REEP1; C2orf23; SPG31; Receptor expression-enhancing protein 1; Spastic paraplegia 31 protein
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長度:
    full length protein
  • 表達區域:
    1-201
  • 氨基酸序列
    MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLC WFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVH FGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASG KHGQPKMSRSASESASSSGTA
    Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
    If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
  • 蛋白標簽:
    N-terminal 10xHis-tagged
  • 產品提供形式:
    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.
  • 緩沖液:
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 儲存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 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:
    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.
  • 注意事項:
    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.

產品評價

靶點詳情

  • 功能:
    Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance.
  • 基因功能參考文獻:
    1. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
    2. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations. PMID: 26201691
    3. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31. PMID: 24986827
    4. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions. PMID: 24478229
    5. Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders. PMID: 24355597
    6. REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum. PMID: 24051375
    7. A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome. PMID: 23108492
    8. Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1 PMID: 22703882
    9. Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype. PMID: 21618648
    10. previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia PMID: 20718791
    11. Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics. PMID: 20200447
    12. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. PMID: 19781397
    13. RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression. PMID: 16720576
    14. REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease. PMID: 16826527
    15. Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients. PMID: 18321925
    16. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations PMID: 18644145
    17. Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1. PMID: 19034539
    18. A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP. PMID: 19072839

    顯示更多

    收起更多

  • 相關疾病:
    Spastic paraplegia 31, autosomal dominant (SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B)
  • 亞細胞定位:
    Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum.
  • 蛋白家族:
    DP1 family
  • 組織特異性:
    Expressed in circumvallate papillae and testis.
  • 數據庫鏈接:

    HGNC: 25786

    OMIM: 609139

    KEGG: hsa:65055

    STRING: 9606.ENSP00000438346

    UniGene: Hs.368884



主站蜘蛛池模板: 国产粗话肉麻对白在线播放| 无码人妻精品一区二区蜜桃百度| 色欲精品国产一区二区三区av | 色噜噜狠狠一区二区三区| 欧美日韩一区二区三区自拍| 无码东京热一区二区三区| 无码国产精品一区二区vr| 亚洲色精品aⅴ一区区三区| 国产内射老熟女aaaa∵| 精品午夜国产福利观看| 丝袜足控一区二区三区| 国产成人无码区免费网站| 亚洲国产精品久久网午夜| 亚洲伊人色综合www962| 婷婷网色偷偷亚洲男人甘肃| 最近更新中文字幕| 久久精品国产久精国产一老狼| 又大又粗又爽免费视频a片| 人人妻人人澡av天堂香蕉| 国产人碰人摸人爱免费视频| 一二三四免费观看在线视频中文版| 在线精品视频一区二区| 最新无码a∨在线观看| 精品国产天线2019| 日本亲近相奷中文字幕| 国产精品色拉拉| 夜夜夜夜猛噜噜噜噜噜| 男ji大巴进入女人的视频| 国产女人高潮嗷嗷嗷叫| 欧美饥渴少妇xxxxx性| 久久精品国产99国产精品| 国产肉体xxxx裸体137大胆| 国产亚洲欧美日韩精品一区二区 | 国语对白刺激精品视频| 国内精品久久久久久久小说| 欧美激情内射喷水高潮| 97国语精品自产拍在线观看| 亚洲欭美日韩颜射在线| 久久99国产综合精品免费| 亚洲人成自拍网站在线观看| 久草热久草热线频97精品|