CACNA2D1 Antibody

說明書

中文名稱：

CACNA2D1兔多克隆抗體
貨號：

CSB-PA059719
規格：

￥2024
圖片：
Immunohistochemical analysis of paraffin-embedded Human gastric cancer tissue using at dilution 1/30.

Immunohistochemical analysis of paraffin-embedded Human liver cancer tissue using at dilution 1/30.
其他：

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靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) CACNA2D1 Polyclonal antibody
Uniprot No.：

P54289
基因名：

CACNA2D1
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Synthetic peptide corresponding to a region derived from internal residues of Human calcium channel, voltage-dependent, L type, alpha 1D subunit
免疫原種屬：

Homo sapiens (Human)
克隆類型：

Polyclonal
純化方式：

Antigen Affinity Purified
濃度：

It differs from different batches. Please contact us to confirm it.
產品提供形式：

Liquid
應用范圍：

ELISA,IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:50-1:100

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) 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：

The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling.
基因功能參考文獻：
1. Using human genome-wide association study (GWAS) data, evidence for association of a CACNA2D1 single-nucleotide polymorphism and primary open angle glaucoma is found. PMID: 29176626
2. we report an additional patient with the 7q21.11 deletion syndrome and provide evidence that haploinsufficiency for a single gene may not be the disease mechanism. In vitro studies of the interaction between PCLO and CACNA2D1 will be required to examine the hypothesis that combined haploinsufficiency for these two synaptic proteins results in neuronal dysfunction PMID: 28240412
3. All three patients present with epilepsy and intellectual disability pinpointing the CACNA2D1 gene as an interesting candidate gene for these clinical features. PMID: 25074461
4. Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy. PMID: 24438356
5. High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data. PMID: 23414114
6. Functional expression of CACNA2D1 is inhibited by prion protein expression with competition at glycosylphosphatidylinositol. PMID: 24329154
7. this study reports the identification and characterization of the human alpha2delta-1 subunit gene promoter region and its regulation by specific transcription factor 1. PMID: 23242029
8. (Review) In neurons, alpha2delta1 subunits are present mainly in presynaptic terminals; peripheral sensory nerve injury results in up-regulation of alpha2delta1 in dorsal root ganglion neurons, and there is consequent increase in trafficking of alpha2delta1 to their terminals. PMID: 20579869
9. In neocortical slices from transgenic mice having a point mutation (i.e., R217A) of the alpha2delta-1 subunit of voltage-sensitive calcium channels, pregabalin does not affect potassium-evoked glutamate release, yet inhibits this release in wild-type mice. PMID: 21464332
10. Results show that mutation of CACNA2D1 gene causes a new varant of SCTS. PMID: 21383000
11. CACNA2D1 is a novel Brugada Syndrome susceptibility gene. PMID: 20817017
12. CACNA2D1 has structural domains which contribute to the regulation of N-type calcium channel inactivation PMID: 14602720
13. Timothy syndrome is a disease of excessive cellular Ca(2+) entry and life-threatening arrhythmias caused by a mutation in the primary cardiac L-type Ca(2+) channel (Ca(V)1.2). PMID: 19001023
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亞細胞定位：

Membrane; Single-pass type I membrane protein.
蛋白家族：

Calcium channel subunit alpha-2/delta family
組織特異性：

Isoform 1 is expressed in skeletal muscle. Isoform 2 is expressed in the central nervous system. Isoform 2, isoform 4 and isoform 5 are expressed in neuroblastoma cells. Isoform 3, isoform 4 and isoform 5 are expressed in the aorta.
數據庫鏈接：

HGNC: 1399

OMIM: 114204

KEGG: hsa:781

STRING: 9606.ENSP00000349320

UniGene: Hs.282151

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