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  4. Recombinant Human Protein C19orf12 (C19orf12)

Recombinant Human Protein C19orf12 (C19orf12)

  • 中文名称：
    Recombinant Human Protein C19orf12(C19orf12)
  • 货号：
    CSB-CF878882HU
  • 规格：
  • 来源：
    in vitro E.coli expression system
  • 其他：

产品详情

  • 基因名：
    C19orf12
  • Uniprot No.：
  • 别名：
    C19orf12; Protein C19orf12
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-152
  • 氨基酸序列
    MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal 10xHis-tagged
  • 产品提供形式：
    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.
  • 缓冲液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 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：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 基因功能参考文献：
    1. This study showed that C19orf19 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
    2. This study shown neurodegeneration associated with mutations in C19orf12 in the periventricular region. PMID: 28347614
    3. The C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with mitochondrial membrane protein associated neurodegeneration. PMID: 28347615
    4. Its mutations are not found in Iranian Parkinson's disease patients. PMID: 28365006
    5. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43). PMID: 26714052
    6. Two Turkish sisters with Behr syndrome with homozygous C19ORF12 mutation PMID: 26187298
    7. In several families with neurodegeneration with brain iron accumulation, novel mutations were found in the C19orf12 gene. PMID: 25962551
    8. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. PMID: 23857908
    9. Subsequent testing detected compound heterozygous mutations in c19orf12 consistent with mitochondrial membrane protein-associated neurodegeneration PMID: 23494994
    10. Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. PMID: 22584950
    11. Mutations in the c19orf12 gene encoding a mitochondrial protein of unknown function were identified in patients suffering from Neurodegeneration with brain iron accumulation. PMID: 22691760
    12. This study identified 3 patients carrying novel mutations in the C19orf12 gene in patients with neurodegeneration with brain iron accumulation. PMID: 22704260
    13. orphan mitochondrial protein c19orf12 absence causes a distinct clinical subtype of neurodegeneration with brain iron accumulation PMID: 21981780

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  • 相关疾病：
    Neurodegeneration with brain iron accumulation 4 (NBIA4); Spastic paraplegia 43, autosomal recessive (SPG43)
  • 亚细胞定位：
    Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol.
  • 数据库链接：

    HGNC: 25443

    OMIM: 614297

    KEGG: hsa:83636

    STRING: 9606.ENSP00000376103

    UniGene: Hs.529094