SETD5 Antibody, HRP conjugated
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中文名稱：SETD5兔多克隆抗體, HRP偶聯(lián)
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貨號：CSB-PA871633LB01HU
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規(guī)格：￥880
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其他：
產(chǎn)品詳情
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產(chǎn)品名稱：Rabbit anti-Homo sapiens (Human) SETD5 Polyclonal antibody
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Uniprot No.：
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基因名：SETD5
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別名：SET domain containing 5 antibody; SET domain-containing protein 5 antibody; Setd5 antibody; SETD5_HUMAN antibody
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Recombinant Human SET domain-containing protein 5 protein (519-700AA)
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：HRP
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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(chǎn)品提供形式：Liquid
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應(yīng)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.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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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.
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基因功能參考文獻(xiàn)：
- 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
- 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
- SETD5 frameshift mutation identified in a patient with mild intellectual disability. PMID: 28549204
- SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability. PMID: 25138099
- 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
- 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)
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亞細(xì)胞定位：Nucleus. Chromosome.
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