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SLC25A46 Antibody

  • 货号：
    CSB-PA021517GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q96AG3
  • 基因名：
    SLC25A46
  • 别名：
    SLC25A46; TB1; Solute carrier family 25 member 46
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SLC25A46
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Neuropathy, hereditary motor and sensory, 6B (HMSN6B)
  • 亚细胞定位：
    Mitochondrion outer membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Mitochondrial carrier (TC 2.A.29) family
  • 数据库链接：

    HGNC: 25198

    OMIM: 610826

    KEGG: hsa:91137

    STRING: 9606.ENSP00000348211

    UniGene: Hs.75639