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KANSL1 Antibody

  • 货号：
    CSB-PA770344LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA770344LA01HU at dilution of 1:100
    • Immunofluorescent analysis of A549 cells using CSB-PA770344LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) KANSL1 Polyclonal antibody
  • Uniprot No.：
    Q7Z3B3
  • 基因名：
    KANSL1
  • 别名：
    CENP-36 antibody; centromere protein 36 antibody; DKFZp686P06109 antibody; DKFZp727C091 antibody; hMSL1v1 antibody; hypothetical protein LOC284058 antibody; K1267_HUMAN antibody; KANSL1 antibody; KAT8 regulatory NSL complex subunit 1 antibody; KDVS antibody; KIAA1267 antibody; male-specific lethal 1 homolog antibody; MGC102843 antibody; MLL1/MLL complex subunit KIAA1267 antibody; MSL1 homolog 1 antibody; MSL1v1 antibody; Non specific lethal 1 homolog antibody; NSL complex protein NSL1 antibody; NSL1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human KAT8 regulatory NSL complex subunit 1 protein (815-1086AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，KANSL1 Antibody (CSB-PA770344LA01HU)，的标记方式是Non-conjugated。对于KANSL1 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-PA770344LB01HU KANSL1 Antibody, HRP conjugated ELISA
    FITC CSB-PA770344LC01HU KANSL1 Antibody, FITC conjugated
    Biotin CSB-PA770344LD01HU KANSL1 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, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 1:50-1:200
  • 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：
    As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.
  • 基因功能参考文献：
    1. These results show that a KANSL1 microduplication, in combination with the 22q11.2 deletion, is associated with increased risk of CHD in these patients, suggesting that KANSL1 plays a role as a modifier gene in 22q11.2DS patients. PMID: 28496102
    2. One variant, p.Lys104Thr, was predicted damaging and appeared overrepresented in our 90-patient cohort compared to Genome Aggregation Database allele frequency (0.217 to 0.116). However, there was no difference in p.Lys104Thr allele frequency in the follow-up childhood epilepsy with centrotemporal spikes (CECTS) and atypical childhood epilepsy with centrotemporal spikes (ACECTS) cohort and controls. PMID: 29352316
    3. This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. PMID: 28211987
    4. In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. PMID: 26424144
    5. essential for mitotic spindle assembly and chromosome segregation PMID: 26243146
    6. KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome. PMID: 26293599
    7. findings show that de novo loss-of-function mutations in KANSL1 cause a full del(17q21.31) phenotype in 2 unrelated individuals that lack deletion at 17q21.31; findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1 PMID: 22544367
    8. Observational study of gene-disease association. (HuGE Navigator) PMID: 18509094

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  • 亚细胞定位：
    Nucleus. Nucleus. Chromosome, centromere, kinetochore.
  • 组织特异性：
    Expressed in the brain.
  • 数据库链接：

    HGNC: 24565

    OMIM: 612452

    KEGG: hsa:284058

    STRING: 9606.ENSP00000262419

    UniGene: Hs.648744