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IGHMBP2 Antibody

  • 货号：
    CSB-PA011172LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver cancer using CSB-PA011172LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA011172LA01HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) IGHMBP2 Polyclonal antibody
  • Uniprot No.：
    P38935
  • 基因名：
    IGHMBP2
  • 别名：
    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
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human DNA-binding protein SMUBP-2 protein (646-884AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，IGHMBP2 Antibody (CSB-PA011172LA01HU)，的标记方式是Non-conjugated。对于IGHMBP2 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA011172LB01HU IGHMBP2 Antibody, HRP conjugated ELISA
    FITC CSB-PA011172LC01HU IGHMBP2 Antibody, FITC conjugated
    Biotin CSB-PA011172LD01HU IGHMBP2 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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

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  • 相关疾病：
    Neuronopathy, distal hereditary motor, 6 (HMN6); Charcot-Marie-Tooth disease 2S (CMT2S)
  • 亚细胞定位：
    Nucleus. Cytoplasm. Cell projection, axon.
  • 蛋白家族：
    DNA2/NAM7 helicase family
  • 组织特异性：
    Expressed in all tissues examined. Expressed in the developing and adult human brain, with highest expression in the cerebellum. Moderately expressed in fibroblasts.
  • 数据库链接：

    HGNC: 5542

    OMIM: 600502

    KEGG: hsa:3508

    STRING: 9606.ENSP00000255078

    UniGene: Hs.503048