KCTD7 Antibody, Biotin conjugated

說明書

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) KCTD7 Polyclonal antibody
Uniprot No.：

Q96MP8
基因名：

KCTD7
別名：

KCTD7 antibody; BTB/POZ domain-containing protein KCTD7 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human BTB/POZ domain-containing protein KCTD7 protein (5-152AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
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
Protocols：

ELISA 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.

功能：

May be involved in the control of excitability of cortical neurons.
基因功能參考文獻：
1. KCTD7 has an impact on K+ fluxes, neurotransmitter synthesis and neuronal function, and that malfunction of the encoded protein may lead to progressive myoclonus epilepsy. PMID: 27742667
2. reviews the phenotype of progressive myoclonic epilepsy associated with KCTD7 mutations [review] PMID: 27629772
3. This study identified that novel KCTD7 mutation in patients with progressive myoclonus epilepsy with ataxia. PMID: 25060828
4. The KCTD7 gene, previously associated with progressive myoclonus epilepsies (PMEs) in a single inbred family, was screened for mutations in 18 Turkish PME patients. PMID: 22693283
5. this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14. PMID: 22748208
6. We found a C to T mutation in exon 2 of the potassium channel tetramerization domain containing 7 gene(KCTD7)in a progressive myoclonic epilepsy family affecting a highly conserved segment of the predicted protein changing an arginine codon to a stop. PMID: 17455289
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相關疾病：

Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3)
亞細胞定位：

Cell membrane. Cytoplasm, cytosol.
數據庫鏈接：

HGNC: 21957

OMIM: 611725

KEGG: hsa:154881

UniGene: Hs.546627

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