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  4. Recombinant Human Solute carrier family 22 member 5 (SLC22A5), partial

Recombinant Human Solute carrier family 22 member 5 (SLC22A5), partial

  • 货号：
    CSB-YP021460HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP021460HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP021460HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP021460HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP021460HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC22A5
  • Uniprot No.：
  • 别名：
    CDSP; High-affinity sodium-dependent carnitine cotransporter; OCTN2; OCTN2VT; Organic cation/carnitine transporter 2; S22A5_HUMAN; Slc22a5; Solute carrier family 22 (organic cation/carnitine transporter) member 5; Solute carrier family 22 member 5
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.
  • 基因功能参考文献：
    1. When endogenous OCTN2-mediated colistin transport was inhibited by co-incubation with L-carnitine, primary mouse proximal tubular cells were fully protected from colistin toxicity PMID: 28986476
    2. The OCTN2 carnitine transporter is essential for retaining carnitine in the body and allowing adequate supplies to the heart and the skeletal muscle, which derive most of their energy from fat. Mutations impairing its function result in carnitine deficiency that can present early in life with hypoketotic hypoglycemia, or later in life with cardiomyopathy and sudden death from cardiac arrhythmia. Review. PMID: 26828774
    3. A homozygous stop variant in the SLC22A5 gene in a family with cardiomyopathy and sudden death history. PMID: 28295041
    4. Elucidation of GM-CSF signaling demonstrates that the cytokine causes the activation of mTOR kinase, leading to the phosphorylation and activation of STAT3, which, in turn, is responsible for OCTN2 transcription. PMID: 27733576
    5. dissociation of bound substrate from the transporter is rate limiting in establishing maximal rates of OCT2-mediated transport PMID: 28615288
    6. It is postulated that ZO-1, when not phosphorylated by PKC, keeps Octn2 in an active state, while elimination of this binding in DeltaPDZ mutant or after ZO-1 phosphorylation leads to diminution of Octn2 activity. PMID: 28257821
    7. Results confirmed the diagnosis of eight patients with systemic primary carnitine deficiency (CDSP) on the gene level, including six mutations found in the solute carrier family 22 member 5 (SLC22A5) gene. PMID: 28186590
    8. Our results suggest that a common promoter haplotype of OCTN2 regulates the transcriptional rate of OCTN2 and influences the clinical course of CD. PMID: 26965072
    9. The local genotype influences methylation levels at SLC22A5 and ZPBP2 promoters independently of the asthma status. Further studies are necessary to confirm the relationship between GSDMA-ZPBP2 and SLC22A5 methylation and asthma in females and males separately. PMID: 26671913
    10. The results of the current study demonstrated that -207C>G polymorphism of the SLC22A5 gene is not associated with male infertility. PMID: 26370461
    11. c.760C>T (p.R254X) mutation of the SLC22A5 gene is associated with the primary carnitine deficiency. PMID: 26252091
    12. Human OCTN2 expression is directly regulated by PPAR-alpha. PMID: 25299939
    13. Nine novel SLC22A5 gene mutations were identified and characterized in Chinese patients with Systemic primary carnitine deficiency CDSP. The R254X mutation was the most frequent, and it could likely be an ethnic founder mutation. PMID: 25132046
    14. A novel in-frame deletion (p.F23del), and a novel nonsense mutation (p.Q180X) result in primary carnitine deficiency. PMID: 23379544
    15. Mutation analysis of the gene SLC22A5 confirms the diagnosis of primary systemic carnitine deficiency. PMID: 22260907
    16. OCTN2 is involved in L-carnitine transport at the human BBB. PMID: 23877104
    17. Mutations in SLC22A5 and ETFDH are associated with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency. PMID: 25119904
    18. promoter methylation is responsible for epigenetic down-regulation of OCTN2 in HepG2 and LS174T cells. PMID: 24146874
    19. The OCTN2 transporter is generally down-regulated in virus and nonvirus-mediated epithelial cancers, probably via methylation of its promoter region. PMID: 22374795
    20. Besides the dramatic decrease of free carnitine, carnitine ester metabolism is affected in OCTN2 deficiency in a family with a deletion of 844C of the SLC22A5 gene PMID: 19238580
    21. SLC22A5 is an estrogen-dependent gene regulated via a newly identified intronic estrogen response element. PMID: 22212555
    22. Findings indicate that etoposide can inhibit hOCTN2 function, potentially disturb carnitine homeostasis. PMID: 22389472
    23. OCTN2 polymorphisms were not significantly associated with either cancer risk or progression. PMID: 21793125
    24. Fibroblasts from asymptomatic women have on average higher levels of residual carnitine transport activity as compared to that of symptomatic patients due to the presence of at least one missense SLC22A5 mutation. PMID: 21922592
    25. There is not any significant correlation of SLC22A5 polymorphisms with Crohn's disease. PMID: 22118696
    26. Carnitine organic cation transporters 2 downregulation is associated with ulcerative colitis. PMID: 21910182
    27. impaired plasma membrane targeting of the D122Y and K302E-hOCTN2 variants that occur in Singaporean populations contributes to decreased carnitine influx. PMID: 21864509
    28. the whole expression level of OCTN2 messenger RNA at the inflamed mucosa was significantly reduced compared to noninflamed areas, both in Crohn's Disease and ulcerative colitis patients PMID: 21287663
    29. OCTN1 and OCTN2 both transport oxaliplatin and are functionally expressed by dorsal root ganglion neurons. PMID: 21606177
    30. Under hypoxic conditions, placental OCTN2 is down-regulated through PPARalpha-mediated pathways. PMID: 21125992
    31. OCTN2 mutations are associated with primary carnitine deficiency. PMID: 21126579
    32. The entire coding regions of the OCTN2 gene were sequenced in 143 unrelated subjects suspected of having Systemic primary carnitine deficiency. PMID: 20574985
    33. analysis of plasma carnitine ester profiles in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes PMID: 19735486
    34. has functional sites for carnitine and Na(+) and carnitine-binding site is involved, in part, in the recognition of organic cations PMID: 12183691
    35. novel missense mutations in the OCTN2 gene (1340A >G and 83G>T) were found in two Saudi patients with sytemic carnitine deficiency PMID: 12408185
    36. Demonstration that l-carnitine uptake in differentiated Caco-2 cells is primarily mediated by OCTN2, located on the brush border membrane PMID: 12684216
    37. downregulated in elderly persons and in myelodysplastic syndrome patients; reduction was more than 85% compared to younger adults PMID: 12802501
    38. multiple domains of the OCTN2 transporter are required for carnitine transport PMID: 14506273
    39. tyrosine residues are involved in coupling the sodium electrochemical gradient to transmembrane solute transfer in the sodium-dependent co-transporter OCTN2 PMID: 14665638
    40. a G-->C transversion in trhe promoter of SLC22A5 is associated with Crohn disease PMID: 15107849
    41. The reported properties of OCTN2 resemble those observed for l-carnitine uptake in placental brush border vesicles, suggesting that OCTN2 may mediate most maternofetal carnitine transport in humans. PMID: 15238359
    42. truncating R254X mutation in the OCTN2 gene found in a Saudi Arabian kindred suggesting that it may be a recurrent mutation or a very ancient founder mutation PMID: 15303004
    43. OCTN2 is localized in the apical membrane of syncytiotrophoblasts, suggesting a major role in the uptake of carnitine during fetal development. PMID: 15486076
    44. homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter in children with cardiomyopathy and decreased plasma carnitine PMID: 15487009
    45. Carnitine transport by OCTN2 requires functional linkage between transmembrane domains (TMD) 1-7 and TMD11. PMID: 15499185
    46. Double transfection of OCTN2 with PDZK1 stimulated the uptake by OCTN2 of its endogenous substrate carnitine. PMID: 15523054
    47. 8 new mutations were found: V153fsX193, W275X, R289X, 1267del+3_+23, M1I, T232M, T468R. PMID: 15714519
    48. OCTN2 is expressed in the human heart and can be modulated by drug administration. Moreover, OCTN2 can contribute to the cardiac uptake of cardiovascular drugs PMID: 16490820
    49. none of the 4 haplotypes present in the SLC22A4/SLC22A5 region in 5q31 showed significant association with rheumatoid arthritis in our Spanish cohort PMID: 16652416
    50. Association of type 1 diabetes of single nucleotide polymorphism mapping to SLC22A5 gene. PMID: 16796743

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  • 相关疾病：
    Systemic primary carnitine deficiency (CDSP)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Major facilitator (TC 2.A.1) superfamily, Organic cation transporter (TC 2.A.1.19) family
  • 组织特异性：
    Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.
  • 数据库链接：

    HGNC: 10969

    OMIM: 212140

    KEGG: hsa:6584

    STRING: 9606.ENSP00000245407

    UniGene: Hs.443572