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

IGHMBP2 Antibody, FITC conjugated

  • 中文名稱:
    IGHMBP2兔多克隆抗體, FITC偶聯
  • 貨號:
    CSB-PA011172LC01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) IGHMBP2 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    IGHMBP2
  • 別名:
    AEP antibody; Antifreeze enhancer binding protein antibody; ATP-dependent helicase IGHMBP2 antibody; Cardiac transcription factor 1 antibody; Cardiac transcription factor1 antibody; CATF 1 antibody; CATF1 antibody; CMT2S antibody; DNA-binding protein SMUBP-2 antibody; GF-1 antibody; Glial factor 1 antibody; HCSA antibody; HMN 6 antibody; HMN6 antibody; IGHMBP 2 antibody; Ighmbp2 antibody; Immunoglobulin mu binding protein 2 antibody; Immunoglobulin mu binding protein2 antibody; Immunoglobulin mu-binding protein 2 antibody; Immunoglobulin S mu binding protein 2 antibody; Immunoglobulin S mu binding protein2 antibody; RIPE3 b1 antibody; RIPE3b 1 antibody; RIPE3b1 antibody; SMARD 1 antibody; SMARD1 antibody; SMBP2_HUMAN antibody; SMUBP 2 antibody; SMUBP2 antibody; ZFAND7 antibody; zinc finger, AN1 type domain 7 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human DNA-binding protein SMUBP-2 protein (646-884AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    FITC
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產品提供形式:
    Liquid
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation. DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.
  • 基因功能參考文獻:
    1. detected IGHMBP2 mutations in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients; four mutations, c.1489G > A, c.2356delG, c.2597_2598delAG and c.1061-2A > G, are reported for the first time PMID: 28065684
    2. We present the original report of Charcot-Marie-Tooth disease (CMT) type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for ~1.6% of axonal CMT in our cohort. PMID: 28202949
    3. Case report and review of 20 reported spinal muscular atrophy with respiratory distress type I cases that have no respiratory involvement or have late onsets, propose that IGHMBP2 gene mutations are characterized by significant phenotypic heterogeneity PMID: 26922252
    4. demonstration of 2 additional mutations in the IGHMBP2 gene associated with hereditary motor and sensory neuropathy PMID: 26136520
    5. The IGHMBP2 gene was not found to be a major causative gene linked to Han Chinese non-5q-spinal muscular atrophy patients. PMID: 24022109
    6. Spinal muscular atrophy with respiratory distress type 1 that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin mu-binding protein. PMID: 25248952
    7. Mutations in IGHMBP2 were identified in patients presenting with axonal sensorimotor neuropathy. PMID: 25568292
    8. IGHMBP2 overexpression may promote invasion and migration of esophageal squamous carcinoma cells through down-regulation of E-cadherin. PMID: 25881701
    9. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. PMID: 25439726
    10. 6 novel IGHMBP2 mutations were identified in 5 SMARD1 patietns PMID: 24388491
    11. Genetic studies identified 2 mutations in the gene IGHMBP2. These results support the consideration of this entity as a form of sensory-motor rapidly progressive polyneuropathy. PMID: 22791546
    12. Results reveal the critical role of the R3H domain in modulation of enzymatic and RNA-binding activities of Ighmbp2. PMID: 22965130
    13. report the NMR structure of the Smubp2-R3H in complex with deoxyguanosine 5'-monophosphate (dGMP) mimicking the 5'-end of single-stranded DNA PMID: 22999958
    14. mutations in the IGHMBP2 gene of patients with more favorable outcomes retained residual enzymatic activity. PMID: 22157136
    15. Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations. PMID: 20031928
    16. Taken together, these observations suggest that the duplicated GGAA motifs are essential for the IGHMBP2 promoter activity and its positive response to TPA in HL-60 cells. PMID: 20441787
    17. NMR solution structure of the R3H domain from human Smubp-2 PMID: 12547203
    18. association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin micro-binding protein 2 (IGHMBP2) at chromosome 11q13.2-q13.4 PMID: 15599641
    19. IGHMBP2 may not have a role in development of breast cancer in female smokers PMID: 16752224
    20. 2 novel heterozygous IGHMBP2 mutations in two cases of SMARD1 were identified: 1061G>A, amino acid substitution G354S, exon 7; 129delC, frameshift mutation, exon 2. PMID: 16964485
    21. Juvenile SMARD1 with onset in early childhood can also be caused by mutations of IGHMBP2.5 In accordance with the known phenotypical overlapping between SOD1-associated fALS and SMA, we investigated a selected group of eight sporadic ALS patients. PMID: 18187479
    22. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. PMID: 18802676
    23. SMARD1 phenotype should be considered in cases of atypical spinal muscular atrophy even in the absence of overt diaphragmatic weakness. PMID: 19157874
    24. IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in distal spinal muscular atrophy type 1 patients. PMID: 19158098

    顯示更多

    收起更多

  • 相關疾?。?/div>
    Neuronopathy, distal hereditary motor, 6 (HMN6); Charcot-Marie-Tooth disease 2S (CMT2S)
  • 亞細胞定位:
    Nucleus. Cytoplasm. Cell projection, axon.
  • 蛋白家族:
    DNA2/NAM7 helicase family
  • 組織特異性:
    Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.
  • 數據庫鏈接:

    HGNC: 5542

    OMIM: 600502

    KEGG: hsa:3508

    STRING: 9606.ENSP00000255078

    UniGene: Hs.503048



主站蜘蛛池模板: 国产日韩亚洲大尺度高清| 欧美乱码卡一卡二卡四卡免费| 成人国产一区二区三区精品不卡 | 中文无码一区二区三区在线观看| 久久99国产综合精品| 亚洲精品无码久久久久久| 国产-第1页-浮力影院| 久久久欧美精品激情| 免费无码又爽又刺激成人| 久久国产高潮流白浆免费观看| 成人做爰69片免费看网站野花| 亚洲第一aaaaa片| 亚洲国产成人精品久久久| 亚洲精品综合在线影院| 成熟老妇女毛茸茸的做性 | 中国极品少妇xxxxx| 亚洲精品蜜桃久久久久久| 99re6热精品视频在线观看| 国产成+人+综合+亚洲 欧美 | 18禁美女黄网站色大片免费看| 婷婷六月丁香缴 清| 不卡高清av手机在线观看| 久久精品国产2020| 性无码专区无码| 亚洲精品一区二区| 国产薄丝脚交视频在线观看| 国产精品人成电影在线观看| 人妻少妇精品一区二区三区| 朝鲜美女黑毛bbw| 亚洲欧美日韩中文字幕在线一区 | 67194熟妇人妻欧美日韩| 一本久道综合色婷婷五月| 丰满女人又爽又紧又丰满| 在厨房拨开内裤进入在线视频| 国产成人手机高清在线观看网站| 成人网站免费高清视频在线观看 | 66亚洲一卡2卡新区成片发布| 久久久久女人精品毛片| 色老头av亚洲一区二区男男| 2021在线不卡国产麻豆| 亚洲中文字幕无码一区|