KANSL1 Antibody

中文名稱：

KANSL1兔多克隆抗體
貨號：

CSB-PA770344LA01HU
規格：

￥440
圖片：
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：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) KANSL1 Polyclonal antibody
Uniprot No.：

Q7Z3B3
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：

Non-conjugated

本頁面中的產品，KANSL1 Antibody (CSB-PA770344LA01HU)，的標記方式是Non-conjugated。對于KANSL1 Antibody，我們還提供其他標記。見下表：

標記方式	貨號	產品名稱	應用
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
應用范圍：

ELISA, IHC, IF

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200
IF	1:50-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) Protocol
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：

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.
數據庫鏈接：

HGNC: 24565

OMIM: 612452

KEGG: hsa:284058

STRING: 9606.ENSP00000262419

UniGene: Hs.648744

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