在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

  1. 首頁
  2. 蛋白
  3. 重組蛋白
  4. Recombinant Human Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13), partial

Recombinant Human Calcium-binding mitochondrial carrier protein Aralar2 (SLC25A13), partial

  • 中文名稱：
    人SLC25A13重組蛋白
  • 貨號：
    CSB-YP892444HU1
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人SLC25A13重組蛋白
  • 貨號：
    CSB-EP892444HU1
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人SLC25A13重組蛋白
  • 貨號：
    CSB-EP892444HU1-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    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：
  • 中文名稱：
    人SLC25A13重組蛋白
  • 貨號：
    CSB-BP892444HU1
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人SLC25A13重組蛋白
  • 貨號：
    CSB-MP892444HU1
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC25A13
  • Uniprot No.：
  • 別名：
    SLC25A13; ARALAR2; Calcium-binding mitochondrial carrier protein Aralar2; Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    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.
  • 產(chǎn)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.
  • 復溶：
    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.
  • 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：
    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：
    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.

產(chǎn)品評價

靶點詳情

  • 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：
    1. There was a correlation between SLC25A13 gene mutations distribution and the GGT level in infants with neonatal intrahepatic cholestasis caused by citrin deficiency PMID: 28516797
    2. All neonates have harbored mutations of the solute carrier family 25, member 13 protein (SLC25A13) gene, suggesting the SLC25A13 gene probably underlie the neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). PMID: 29419856
    3. These findings enriched the SLC25A13 mutation spectrum and brought new insights into the geographic distribution of the variations and genotypes, providing reliable evidences for Neonatal intrahepatic cholestasis caused by citrin deficiency definite diagnosis and for the determination of relevant molecular targets in different Chinese areas. PMID: 27405544
    4. Upregulation of GLUD1 and SLC25A13 was associated with tumor aggressiveness and poorer prognosis in colorectal cancer patients. PMID: 27924922
    5. The remaining five patients were diagnosed with neonatal intrahepatic cholestasis due to citrin deficiency, and have respectively carried mutations of the SLC25A13 gene including [c.851-854delGTAT+c.851-854delGTAT], [c.851-854delGTAT+IVS6+5G>A], [c.851-854delGTAT+IVS16ins3kb], [c.851-854delGTAT+IVS6-11A>G] and [c.851-854delGTAT+c.1638-1660dup23] PMID: 28981931
    6. The features of AGC1 structure and function in physiology and pathology, regulation by calcium, and dependency on mitochondrial membrane potential are reviewed. Review. PMID: 27132995
    7. the present study reported on clinical and molecular investigations of an infant with NICCD, who was confirmed to be a compound heterozygote of the c.851_854del4 mutation and a novel large deletion c.1019_1177+893del in the SLC25A13 gene. PMID: 27779681
    8. The large deletion enriched the SLC25A13 mutation spectrum, and its identification supported the concept that cDNA cloning analysis, along with other molecular tools such as semiquantitative PCR, could provide valuable clues, facilitating the identification of obscure SLC25A13 deletions. PMID: 27127784
    9. Data indicate that the patient was a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the mitochondrial carrier citrin protein (SLC25A13) gene, which were respectively inherited from his mother and father. PMID: 27577219
    10. Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation. PMID: 25410934
    11. This study aims to screen for five prevalent SLC25A13 mutations, to calculate the mutation carrier rate in Guangdong. PMID: 25110155
    12. we reviewed the English literature on mutations in the SLC25A13 gene, and its genotype-phenotype correlations to provide valuable insights into the molecular genetic background of citrullinemia--{REVIEW} PMID: 24508627
    13. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel. PMID: 25365849
    14. Point mutation of ASS1, ASL and SLC25A13 is associated with citrullinemia. PMID: 24927999
    15. Identification of novel SLC25A13 gene mutations in East Asian patients with citrin deficiency. PMID: 24069319
    16. Analysis of the SLC25A13 gene sequence. PMID: 23053473
    17. Report frequency SLC25A13 mutations in the Thai population and estimate prevalence of citrin deficiency. PMID: 24282362
    18. The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis. PMID: 23901231
    19. The first two cases of NICCD are described in infants from the UK, one of Caucasian and one of Pakistani origin. PMID: 19517266
    20. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
    21. The objectives were to study the prevalence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Thai infants with idiopathic cholestasis, mutation spectrum of SLC25A13 in Thai NICCD, and comparison of clinical manifestations and blood chemistry between NICCD and non-NICCD infants. PMID: 23067347
    22. uncovered the marked transcript diversity of SLC25A13 gene in human PBLs, and suggested that cDNA cloning analysis of this gene in human PBLs might be a feasible tool for CD molecular diagno PMID: 23022256
    23. Mutations in SLC25A13 are associated with citrin deficiency. PMID: 22277121
    24. In 171 suspected patients, seven neonatal intrahepatic cholestasis caused by citrin deficiency patients were detected by HRM. PMID: 22487826
    25. Functional studies, carried out on the recombinant mutant protein containing glutamate at position 437, demonstrated that neonatal intrahepatic cholestasis caused by citrin deficiency is caused by a reduced transport activity of SLC25A13 PMID: 21914561
    26. Case Report: suggest that the administration of arginine and sodium pyruvate with low-carbohydrate meals may be an effective therapy in patients with citrin deficiency. PMID: 18958581
    27. individuals with non-viral HCC were more likely to possess SLC25A13 gene mutations compared to healthy subjects PMID: 21470889
    28. this study expanded the genotypic and phenotypic spectrum of citrin deficiency. PMID: 21424115
    29. SLC25A13 gene mutations play an important role in Chinese infants with intrahepatic cholestasis and various forms of aminoacidemia; 851del4 and 1638ins23 are the most common mutation types PMID: 20927635
    30. Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified PMID: 21507300
    31. The SLC25A13 mutations may not be a major contributor to the pathogenesis of hepatocellular carcinoma in Taiwan. PMID: 21134364
    32. MDR analysis provided evidence of interaction between the genes for ASS1 and SLC25A13 on the risk of CL/P. PMID: 20739017
    33. Four hundred infants with unexplained intrahepatic cholestasis from 18 China were studied for detecting SLC25A13 gene mutation 851del4. Eight homozygous and 30 heterozygous mutations were detected in 46 mutant alleles with a 851del4 mutation rate of 5.8%. PMID: 20458766
    34. We report three unrelated Malay children with genetically confirmed neonatal intrahepatic cholestatic caused by citrin deficiency characterised by an insertion mutation IVS16ins3kb in SLC25A13 gene PMID: 20614727
    35. SLC25A13 gene mutations exist in Chinese infants with intrahepatic cholestasis and abnormal blood amino acids. PMID: 18578996
    36. The historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis, is described. PMID: 20233664
    37. The 851del4, 1638ins23 and IVS6+5G>A mutations are the hot-spot mutations in Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency. PMID: 20376801
    38. genetic screening of mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations PMID: 11793471
    39. Adult-onset type II citrullinemia is caused by mutations of the SLC25A13 gene PMID: 12111366
    40. Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene. PMID: 17000460
    41. Analysis of citrin protein in peripheral blood lymphocytes is useful to diagnose citrin deficiency in patients without known mutations or hypercitrullinemia. PMID: 17092749
    42. This report describes the clinical characteristics, biochemical findings and molecular analysis of the SLC25A13 gene of patients with citrin deficiency in Korea. PMID: 17982687
    43. report 13 novel SLC25A13 mutations (one insertion, two deletion, three splice site, two nonsense, and five missense) in patients with citrin deficiency from Japan, Israel, UK, and Czech Republic PMID: 18392553
    44. Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, caused by SLC25A13 gene mutations. PMID: 18620775
    45. 5 novel mutations were found in SLC25A13 from three unrelated French-Canadian Citrin deficiency patients. PMID: 19036621
    46. Results of this study showed, even during the silent period, sustained hypercitrullinemia, hypercholesterolemia, and augmented oxidative stress in children with citrin deficiency. PMID: 19232506
    47. 851del4/1638ins23 mutations in a Chinese adult onset type II citrullinaemia patient PMID: 11432966

    顯示更多

    收起更多

  • 相關疾病：
    Citrullinemia 2 (CTLN2); Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)
  • 亞細胞定位：
    Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Mitochondrial carrier (TC 2.A.29) family
  • 組織特異性：
    High levels in liver and low levels in kidney, pancreas, placenta, heart and brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 10983

    OMIM: 603471

    KEGG: hsa:10165

    STRING: 9606.ENSP00000400101

    UniGene: Hs.489190



主站蜘蛛池模板： 无码av岛国片在线播放| 夜夜爽一区二区三区精品| 亚洲欧洲av无码专区| 2018年秋霞无码片| 欧美野性肉体狂欢大派对| 久久99国产亚洲高清观看首页| 午夜精品久久久内射近拍高清| 久久精品成人免费国产片小草 | 精品性高朝久久久久久久| 国精品人妻无码一区免费视频电影 | а天堂中文在线官网在线| 丰满人妻被中出中文字幕| 无码精品a∨在线观看无广告| 99久久婷婷国产一区二区| 人妻换人妻a片爽麻豆| 狠狠热精品免费视频| 青草青草久热国产精品| 无码国产精成人午夜视频| 亚洲国产精华液网站w| 97人妻人人做人碰人人爽| 国产破外女出血视频| 动漫精品视频一区二区三区| 亚洲 欧美 日韩 国产综合 在线| 偷看农村女人做爰毛片色| 137日本免费肉体摄影| 精品无码一区二区三区的天堂| 丰满人妻熟妇乱又伦精品视| 亚洲精品国产综合麻豆久久99| 色综合久久婷婷五月| 欧美人与动牲交a精品| 亚洲国产婷婷香蕉久久久久久| 国产永久免费观看的黄网站| 久久久亚洲精品一区二区三区| 亚洲乱码日产精品bd在线观看 | 国产亚洲欧洲日韩在线...| 中文字幕丝袜第1页| 麻豆亚洲一区| 白丝乳交内射一二三区| 国产在线乱子伦一区二区| 猫咪www免费人成人入口| 超碰aⅴ人人做人人爽|