SETD5 Antibody, FITC conjugated

說(shuō)明書(shū)

中文名稱：

SETD5兔多克隆抗體, FITC偶聯(lián)
貨號(hào)：

CSB-PA871633LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) SETD5 Polyclonal antibody
Uniprot No.：

Q9C0A6
基因名：

SETD5
別名：

SET domain containing 5 antibody; SET domain-containing protein 5 antibody; Setd5 antibody; SETD5_HUMAN antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human SET domain-containing protein 5 protein (519-700AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)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(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.
基因功能參考文獻(xiàn)：
1. Review mapped the clinical phenotypes of 42 individuals carrying mutations on the SETD5 gene, with 23.8% presenting autistic-like features. Most of mutations occurred between positions 9,480,000-9,500,000 bp on chromosome 3 (3p25.3) at the SETD5 gene locus. In all males, mutations in SETD5 presented high penetrance, while in females the clinical phenotype seems more variable. PMID: 29484850
2. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. PMID: 27375234
3. SETD5 frameshift mutation identified in a patient with mild intellectual disability. PMID: 28549204
4. SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability. PMID: 25138099
5. miR126-5p is a functional, endothelial-enriched microRNA that participates in the control of leucocyte trafficking by regulating the expression of ALCAM and SetD5. PMID: 24562769
6. analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of intellectual disability PMID: 24680889
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相關(guān)疾病：

Mental retardation, autosomal dominant 23 (MRD23)
亞細(xì)胞定位：

Nucleus. Chromosome.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 25566

OMIM: 615743

KEGG: hsa:55209

STRING: 9606.ENSP00000383939

UniGene: Hs.288164

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