KCTD7 Antibody, HRP conjugated

产品详情

产品名称：

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

Q96MP8
基因名：

KCTD7
别名：

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

Rabbit
反应种属：

Human
免疫原：

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

Homo sapiens (Human)
标记方式：

HRP
克隆类型：

Polyclonal
抗体亚型：

IgG
纯化方式：

>95%, Protein G purified
浓度：

It differs from different batches. Please contact us to confirm it.
保存缓冲液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
产品提供形式：

Liquid
应用范围：

ELISA
Protocols：

ELISA Protocol
储存条件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
货期：

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.
基因功能参考文献：
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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相关疾病：

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

Cell membrane. Cytoplasm, cytosol.
数据库链接：

HGNC: 21957

OMIM: 611725

KEGG: hsa:154881

UniGene: Hs.546627