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SLC25A12 Antibody

  • 货号：
    CSB-PA099323
  • 规格：
    ￥2024
  • 图片：
    • Immunohistochemistry analysis of paraffin-embedded human prostate carcinoma tissue using CMC1 antibody.
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) SLC25A12 Polyclonal antibody
  • Uniprot No.：
    O75746
  • 基因名：
    SLC25A12
  • 别名：
    SLC25A12; ARALAR1; Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from internal of Human CMC1.
  • 免疫原种属：
    Homo sapiens (Human)
  • 克隆类型：
    Polyclonal
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:50-1:100
  • 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：
    Mitochondrial and calcium-binding carrier that catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.
  • 基因功能参考文献：
    1. Genetic variants of SLC25A12 may be associated with risks for childhood ASD. PMID: 28536923
    2. The features of AGC1 structure and function in physiology and pathology, regulation by calcium, dependency on mitochondrial membrane potential, role in cancer cells, and tissue specificity are reviewed. AGC1 is involved in the glutamate-mediated excitotoxicity in neurons and AGC gene or protein alterations were discovered in rare human diseases. Review. PMID: 27132995
    3. Sensitivity analyses including only studies with family-based design demonstrated significant association between autism spectrum disorders and SNPs rs2292813 and rs2056202. In contrast, sensitivity analyses including case-control design studies only failed to find a significant association. Review. PMID: 25663199
    4. rs2056202 and rs2292813 in SLC25A12 may contribute significantly to autism spectrum disorders risk. PMID: 25921325
    5. Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation. PMID: 25410934
    6. The physiological roles of AGC1, its links to calcium homeostasis, and its involvement in autism pathogenesis, are reviewed. PMID: 21691713
    7. This study found no differences in the allele, genotype, or haplotype frequencies of these two SNPs between patients and controls. PMID: 19913066
    8. Variants of the AGC1-encoding SLC25A12 gene were neither correlated with AGC activation nor associated with autism-spectrum disorders in 309 simplex and 17 multiplex families. PMID: 18607376
    9. SLC25A12 gene is linked to autism PMID: 15056512
    10. Aralar1 has a role in determining glucose metabolic fate, mitochondrial activity, and insulin secretion in beta cells PMID: 15494407
    11. These results suggest that SLC25A12 is not a major contributor to autism risk in these families. PMID: 16648338
    12. it is unlikely that the SLC25A12 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia PMID: 17693006
    13. rs2056202 polymorphism in SLC25A12 may be associated with levels of routines and rituals in autism and related disorders PMID: 17894412
    14. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. PMID: 18180767
    15. SLC25A12 gene is associated with autism. PMID: 19360665

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  • 相关疾病：
    Epileptic encephalopathy, early infantile, 39 (EIEE39)
  • 亚细胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Mitochondrial carrier (TC 2.A.29) family
  • 组织特异性：
    Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.
  • 数据库链接：

    HGNC: 10982

    OMIM: 603667

    KEGG: hsa:8604

    STRING: 9606.ENSP00000388658

    UniGene: Hs.470608