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KANSL1 Antibody, FITC conjugated

  • 中文名稱：
    KANSL1兔多克隆抗體, FITC偶聯(lián)
  • 貨號：
    CSB-PA770344LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) KANSL1 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    KANSL1
  • 別名：
    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
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human KAT8 regulatory NSL complex subunit 1 protein (815-1086AA)
  • 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(chǎn)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.

產(chǎn)品評價

靶點詳情

  • 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.
  • 基因功能參考文獻：
    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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  • 亞細胞定位：
    Nucleus. Nucleus. Chromosome, centromere, kinetochore.
  • 組織特異性：
    Expressed in the brain.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 24565

    OMIM: 612452

    KEGG: hsa:284058

    STRING: 9606.ENSP00000262419

    UniGene: Hs.648744