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SLC25A46 Antibody, Biotin conjugated

  • 中文名稱:
    SLC25A46兔多克隆抗體, Biotin偶聯(lián)
  • 貨號(hào):
    CSB-PA856895LD01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) SLC25A46 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    SLC25A46
  • 別名:
    SLC25A46; TB1; Solute carrier family 25 member 46
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Solute carrier family 25 member 46 protein (1-102AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    Biotin
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA
  • Protocols:
  • 儲(chǔ)存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.
  • 基因功能參考文獻(xiàn):
    1. This study reported a novel variant (p.Trp160Ser) in SLC25A46 and we broaden the phenotypic spectrum associated with mutations in SLC25A46. PMID: 28558379
    2. This study identified of a homozygous missense mutation c.1022T>C and a homozygous genomic deletion involving exon 1 in SLC25A46 encoding a mitochondrial protein leading to lethal pontocerebellar hypoplasia with apnoea and profound weakness. PMID: 27543974
    3. These results show that SLC25A46 plays a role in a mitochondrial/endoplasmic reticulum pathway that facilitates lipid transfer, and link altered mitochondrial dynamics to early-onset neurodegenerative disease and cell fate decisions. PMID: 27390132
    4. SLC25A46 is selectively degraded from the outer membrane independently of mitophagy and apoptosis, providing a framework for mechanistic studies in the proteolysis of outer membrane proteins PMID: 28057766
    5. we showed that the Slc25a46 disruption caused a fusion/fission imbalance and an abnormal mitochondrial architecture that disturbed mitochondrial metabolism. These data extended the range of phenotypes associated with Slc25a46 dysfunction. Moreover, this Slc25a46 knock-out mouse model should be useful to further elucidate the role of SLC25A46 in mitochondrial dynamics PMID: 28376083
    6. Our mutant mice provide a valid model for understanding the mechanistic basis of the complex SLC25A46-mediated pathologies, as well as for screening potential therapeutic interventions. PMID: 28376086
    7. The rs10056340 single nucleotide polymorphism was significantly associated with atopic dermatitis. PMID: 26464032
    8. Data indicate four families with recessive mutations in solute carrier family 25 member 46 protein (SLC25A46). PMID: 26168012
    9. Rs17132261 was associated with left ventricular hypertrophy in type 2 diabetic patients. PMID: 23879873

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  • 相關(guān)疾病:
    Neuropathy, hereditary motor and sensory, 6B (HMSN6B)
  • 亞細(xì)胞定位:
    Mitochondrion outer membrane; Multi-pass membrane protein.
  • 蛋白家族:
    Mitochondrial carrier (TC 2.A.29) family
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 25198

    OMIM: 610826

    KEGG: hsa:91137

    STRING: 9606.ENSP00000348211

    UniGene: Hs.75639



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