KANSL1 Antibody, Biotin conjugated
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中文名稱：KANSL1兔多克隆抗體, Biotin偶聯
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貨號：CSB-PA770344LD01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) KANSL1 Polyclonal antibody
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Uniprot No.：
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基因名：KANSL1
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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
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human KAT8 regulatory NSL complex subunit 1 protein (815-1086AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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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
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應用范圍：ELISA
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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靶點詳情
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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.
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基因功能參考文獻：
- 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
- 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
- This case expands the mild end of the neurodevelopmental spectrum seen in children with de novo KANSL1 mutation and KdVS. PMID: 28211987
- In KANSL1 haploinsufficiency syndrome, chromosome deletions are greatly prevalent compared with KANSL1 mutations. PMID: 26424144
- essential for mitotic spindle assembly and chromosome segregation PMID: 26243146
- KANSL1 gene haploinsufficiency is necessary and sufficient to cause the full spectrum of the 17q21.31 microdeletion syndrome. PMID: 26293599
- 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
- Observational study of gene-disease association. (HuGE Navigator) PMID: 18509094
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亞細胞定位：Nucleus. Nucleus. Chromosome, centromere, kinetochore.
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組織特異性：Expressed in the brain.
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數據庫鏈接：
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