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Recombinant Human Calcium-binding mitochondrial carrier protein Aralar1 (SLC25A12)

  • 中文名稱：
    人SLC25A12重組蛋白
  • 貨號：
    CSB-CF021478HU
  • 規(guī)格：
  • 來源：
    in vitro E.coli expression system
  • 其他：

產(chǎn)品詳情

  • 基因名：
    SLC25A12
  • Uniprot No.：
  • 別名：
    SLC25A12; ARALAR1; Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Full length protein
  • 表達(dá)區(qū)域：
    1-678
  • 氨基酸序列
    MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF KSPSVAVVQPKAAVAATQ
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白標(biāo)簽：
    N-terminal 10xHis-tagged
  • 產(chǎn)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.
  • 緩沖液：
    Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)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.
  • 貨期：
    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.
  • 注意事項(xiàng)：
    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.

產(chǎn)品評價

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾病：
    Epileptic encephalopathy, early infantile, 39 (EIEE39)
  • 亞細(xì)胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Mitochondrial carrier (TC 2.A.29) family
  • 組織特異性：
    Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10982

    OMIM: 603667

    KEGG: hsa:8604

    STRING: 9606.ENSP00000388658

    UniGene: Hs.470608