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

Code CSB-CF021478HU
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names SLC25A12
Uniprot No. O75746
Alternative Names SLC25A12; ARALAR1; Calcium-binding mitochondrial carrier protein Aralar1; Mitochondrial aspartate glutamate carrier 1; Solute carrier family 25 member 12
Species Homo sapiens (Human)
Expression Region 1-678
Target Protein Sequence MAVKVQTTKRGDPHELRNIFLQYASTEVDGERYMTPEDFVQRYLGLYNDPNSNPKIVQLL AGVADQTKDGLISYQEFLAFESVLCAPDSMFIVAFQLFDKSGNGEVTFENVKEIFGQTII HHHIPFNWDCEFIRLHFGHNRKKHLNYTEFTQFLQELQLEHARQAFALKDKSKSGMISGL DFSDIMVTIRSHMLTPFVEENLVSAAGGSISHQVSFSYFNAFNSLLNNMELVRKIYSTLA GTRKDVEVTKEEFAQSAIRYGQVTPLEIDILYQLADLYNASGRLTLADIERIAPLAEGAL PYNLAELQRQQSPGLGRPIWLQIAESAYRFTLGSVAGAVGATAVYPIDLVKTRMQNQRGS GSVVGELMYKNSFDCFKKVLRYEGFFGLYRGLIPQLIGVAPEKAIKLTVNDFVRDKFTRR DGSVPLPAEVLAGGCAGGSQVIFTNPLEIVKIRLQVAGEITTGPRVSALNVLRDLGIFGL YKGAKACFLRDIPFSAIYFPVYAHCKLLLADENGHVGGLNLLAAGAMAGVPAASLVTPAD VIKTRLQVAARAGQTTYSGVIDCFRKILREEGPSAFWKGTAARVFRSSPQFGVTLVTYEL LQRWFYIDFGGLKPAGSEPTPKSRIADLPPANPDHIGGYRLATATFAGIENKFGLYLPKF KSPSVAVVQPKAAVAATQ
Protein Length Full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
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.
Form 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.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution 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.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time 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.
Notes 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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease Epileptic encephalopathy, early infantile, 39 (EIEE39)
Subcellular Location Mitochondrion inner membrane; Multi-pass membrane protein.
Protein Families Mitochondrial carrier (TC 2.A.29) family
Tissue Specificity Expressed predominantly in the heart and skeletal muscle, weakly in brain and kidney.
Database Links

HGNC: 10982

OMIM: 603667

KEGG: hsa:8604

STRING: 9606.ENSP00000388658

UniGene: Hs.470608

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