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  4. Recombinant Human Junctophilin-3 (JPH3), partial

Recombinant Human Junctophilin-3 (JPH3), partial

  • 中文名称：
    人JPH3重组蛋白
  • 货号：
    CSB-YP837875HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人JPH3重组蛋白
  • 货号：
    CSB-EP837875HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人JPH3重组蛋白
  • 货号：
    CSB-EP837875HU-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JPH3重组蛋白
  • 货号：
    CSB-BP837875HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人JPH3重组蛋白
  • 货号：
    CSB-MP837875HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    JPH3
  • Uniprot No.：
  • 别名：
    JP-3; JP3; JPH3; JPH3_HUMAN; Junctophilin 3; Junctophilin type 3; Junctophilin-3; TNRC22; Trinucleotide repeat-containing gene 22 protein
  • 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：
    Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH3 is brain-specific and appears to have an active role in certain neurons involved in motor coordination and memory.
  • 基因功能参考文献：
    1. Thus, JPH3 was identified as a novel tumor suppressor gene methylated in colorectal and gastric tumors which promotes mitochondrial-mediated apoptosis, also as a potential metastasis and survival biomarker for digestive cancers. PMID: 28656064
    2. The expression of JPH isoforms was examined in human and mouse pancreatic tissues, and JPH3 expression was found in both the beta cells. PMID: 27336719
    3. This study identified that abnormal CTG expansions in JPH3 in patient with Huntington Disease. PMID: 27400454
    4. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation. PMID: 26079385
    5. JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. PMID: 22447335
    6. The pathogenic mechanism of Huntington disease-like 2 is multifactorial, involving both a toxic gain of function of JPH3 RNA transcripts and a toxic loss of JPH3 expression in an experimental Huntington disease-like 2 mouse model. PMID: 22367996
    7. This study reveled the an antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. PMID: 21555070
    8. CAG/CTG repeat expansions at the Huntington's disease (HD)-like 2 locus have been identified in the gene encoding junctophilin-3 in an HD patient who carried an allele with 50 uninterrupted repeats. PMID: 11914418
    9. This report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. PMID: 17708569
    10. 244 Patients with the diagnosis of Huntington's Disease and without mutation of the IT15 gene revealed one case of SCA17 but did not disclose the presence of two other diseases with a similar clinical manifestation: DRPLA and HDL2. PMID: 18651325
    11. HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. PMID: 18816802
    12. Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease. PMID: 19724895

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  • 相关疾病：
    Huntington disease-like 2 (HDL2)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Single-pass type IV membrane protein.
  • 蛋白家族：
    Junctophilin family
  • 组织特异性：
    Specifically expressed in brain.
  • 数据库链接：

    HGNC: 14203

    OMIM: 605268

    KEGG: hsa:57338

    STRING: 9606.ENSP00000284262

    UniGene: Hs.592068