CACNA1D Antibody

說明書

中文名稱：

CACNA1D兔多克隆抗體
貨號(hào)：

CSB-PA123907
規(guī)格：

￥1100
圖片：
The image on the left is immunohistochemistry of paraffin-embedded Human brain tissue using CSB-PA123907(CACNA1D Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)

The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using CSB-PA123907(CACNA1D Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: ×200)
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

Uniprot No.：

Q01668
基因名：

CACNA1D
別名：

alpha-1 polypeptide antibody; CAC1D_HUMAN antibody; CACH3 antibody; CACN4 antibody; CACNA 1D antibody; Cacna1d antibody; CACNL1A2 antibody; Calcium channel antibody; Calcium channel L type alpha 1 polypeptide isoform 2 antibody; Calcium channel neuroendocrine/brain type alpha 1 subunit antibody; Calcium channel voltage dependent L type alpha 1 antibody; Calcium channel voltage dependent L type alpha 1D subunit antibody; Cav1.3 antibody; CCHL1A2 antibody; isoform 2 antibody; L type antibody; PASNA antibody; SANDD antibody; Voltage dependent L type calcium channel subunit alpha 1D antibody; Voltage gated calcium channel alpha 1 subunit antibody; Voltage gated calcium channel alpha subunit Cav1.3 antibody; Voltage gated calcium channel subunit alpha Cav1.3 antibody; Voltage-dependent L-type calcium channel subunit alpha-1D antibody; Voltage-gated calcium channel subunit alpha Cav1.3 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human,Rat
免疫原：

Synthetic peptide of Human CACNA1D
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

Non-conjugated
抗體亞型：

IgG
純化方式：

Antigen affinity purification
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,IHC

推薦稀釋比：

Application	Recommended Dilution
ELISA	1:2000-1:5000
IHC	1:50-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
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：

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.
基因功能參考文獻(xiàn)：
1. Although both otoferlin and synaptotagmin bind membrane fusion SNARE proteins, only otoferlin interacts with the L-type calcium channel Cav1.3. PMID: 28696301
2. Study have showned a significant effect of the autism-associated mutation A760G on the gating of CaV1.3 such that channel activation is significantly left-shifted, Ca(2+)-dependent inactivation is decreased, and deactivation is slowed, resulting in excess Ca2+ entry. However, these effects are mitigated by an increase in voltage-dependent inactivation. Also, A760G mutation differentially affects CaV1.3 splice variants. PMID: 27255217
3. Data suggest that p.G403D mutation in CACNA1D causes persistent hyperinsulinaemic hypoglycaemia with heart defects (presenting as aortic valve insufficiency) and severe neuromuscular disease (presenting as hypotonia); this study involves DNA mutational analysis in one patient plus 2 unrelated patients. [CASE REPORT] PMID: 28318089
4. These results provide the evidence of a direct regulatory role of Snapin on Cav1.3 channels in atrial myocytes. PMID: 27915047
5. Study used structure modeling and MD simulations to predict omega-currents in CaV1.1 and CaV1.3 channel VSDs when one of the first three S4 gating charges harbors a disease-causing mutation. Using site-directed mutagenesis and electrophysiology, experimentally confirmed that the mutation of R3 charge to His in VSD III of CaV1.3 channels results in an omega-current at hyperpolarizing potentials. PMID: 28978442
6. CACNA1D mutations predominate in small zona glomerulosa (ZG)-like Aldosterone-producing Adenomas. PMID: 28584012
7. The CACNA1C-L762F mutation is associated with development of long QT syndrome through slower channel inactivation and increased sustained and window current. Timothy syndrome -associated mutations localize to specific areas of CACNA1C and are associated with a younger age at presentation, higher QTc, and 2:1 AV block than isolated LQTS-associated mutations. PMID: 27390944
8. Mutations in CACNA1D cause the excessive autonomous aldosterone secretion of Aldosterone-producing Adenomas. PMID: 28584016
9. While the relative contribution of Cav1.3 to intestinal Ca(2+) absorption and its value as a therapeutic target remain to be established, we postulate that Cav1.3 downregulation in IBD may contribute to the negative systemic Ca(2+) balance, to increased bone resorption, and to reduced bone mineral density in IBD patients. PMID: 27932504
10. E2 upregulated the expression of Cav1.3 for Ca2+ influx to promote the expression of p-ERK1/2 for cell proliferation in breast cancer cells PMID: 27572936
11. LRP1B, BRD2 and CACNA1D are new candidate genes in fetal metabolic programming of newborns exposed to maternal hyperglycemia. PMID: 26586120
12. CACNA1D might not be a risk gene for SCZ in Han Chinese population, which add to the current state of knowledge regarding the susceptibility of CACNA1D to schizophrenia. PMID: 26255836
13. patients with CACNA1D mutations displayed characteristics similar to wild-type aldosterone-producing adenomas PMID: 26606680
14. Studies indicate the function of L-type calcium channels Cav1.3 in chromaffin cells. PMID: 25966692
15. Studies indicate a role for L-type calcium channel Cav1.3 and Cav1.4 in cochlear inner hair cells (IHCs) and retinal photoreceptors (PRs). PMID: 25966695
16. Mutations in CACNA1D gene is associated with aldosterone-producing adenomas. PMID: 26285814
17. Study found that two de novo CACNA1D missense mutations affect evolutionary highly conserved regions in the channel's activation gate and disrupt normal channel activity by inducing a pronounced gain of channel function PMID: 25620733
18. Cav1.3 was overexpressed in atypical hyperplasia and endometrial carcinoma, and the estrogen-induced phosphorylation of downstream molecular ERK1/2 and CREB is the result of activation of the GPER pathway. PMID: 25805831
19. A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7. PMID: 25249183
20. ablation of Cav1.3 results in a decrease in the protein expression of myosin light chain 2, which interacts and increases the membrane localization of SK2 channels. PMID: 25538241
21. CACNA1D gene overexpression is associated with prostate cancer progression and might play an important role in Ca(2+) influx, AR activation, and cell growth in prostate cancer cells PMID: 24054868
22. RNA editing of CaV1.3 channels(CDI) acts to modulate CDI in ways that substantiate a recently emerging mechanism where apoCaM begins preassociated with the IQ domain and other channel elements. PMID: 24120865
23. in patients with aldosterone-producing adenomas, CACNA1D mutations were associated with smaller adenomas. PMID: 24866132
24. Results illustrate that the voltage sensors of Cav1.3 channels respond more sensitively to depolarization than those of Cav1.2 or Cav3.1 PMID: 24703308
25. The calcium inflow through Cav1.2 and Cav1.3 channels in murine spiral ganglion neurons. PMID: 24849370
26. These findings implicate gain-of-function CACNA1D Ca(2+) channel mutations in adrenal aldosterone-producing adenomas and primary aldosteronism. PMID: 23913001
27. A novel mechanism for modulation of the pharmacologic properties of the CaV1.3 channel is identified through posttranscriptional modification of the C terminus. PMID: 23924992
28. N-lobe of Ca(2+)-calmodulin binds an N-terminal spatial Ca(2+) transforming element module on the channel amino terminus, whereas the C-lobe binds an EF-hand region upstream of the IQ domain PMID: 23591884
29. modulation of Cav1.3 Ca channel by calreticulin may be involved in pathological settings such as autoimmune associated congenital heart block where Cav1.3 Ca channels are downregulated PMID: 23791743
30. conclude that the L-type calcium channel Cav1.3 is important in human glucose-induced insulin secretion, and common variants in CACNA1D might contribute to type 2 diabetes. PMID: 23229155
31. analysis of functional characterization of alternative splicing in the C terminus of L-type CaV1.3 channels PMID: 21998309
32. Functional properties of a newly identified C-terminal splice variant of Cav1.3 L-type Ca2+ channels PMID: 21998310
33. A novel pathway for ankyrin-B-dependent regulation of Cav1.3 channel membrane targeting and regulation is found in atrial myocytes. PMID: 21859974
34. CaV1.3 channels and intracellular calcium mediate osmotic stress-induced N-terminal c-Jun kinase activation and disruption of tight junctions in Caco-2 CELL MONOLAYERS. PMID: 21737448
35. We describe a human channelopathy (termed SANDD syndrome, sinoatrial node dysfunction and deafness) with a cardiac and auditory phenotype that closely resembles that of Cacna1d-/- mice. PMID: 21131953
36. These data suggest that RIM2beta contributes to the stabilization of Ca(v)1.3 gating kinetics in immature cochlear inner hair cells. PMID: 20363327
37. Ca(v)1.3 was the sole apical channel responsible for the PRL-stimulated transcellular calcium transport in intestine-like Caco-2 monolayer. PMID: 19885716
38. demonstrate (1) expression of the alpha1D Ca channel in human fetal heart, (2) inhibition of alpha1D I(Ca-L) by positive IgG, and (3) direct cross-reactivity of positive IgG with the alpha1D Ca channel protein PMID: 15939813
39. The modulation of alpha(1D) Ca(2+) channel by PKC was prevented by dialyzing cells with a 35-amino acid peptide mimicking the alpha(1D) NH(2)-terminal region comprising S81. PMID: 16973824
40. analysis of Ca2+-dependent gating of CaV1.3 L-type calcium channels by alternative splicing of a C-terminal regulatory domain PMID: 18482979
41. Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. PMID: 19004828
42. Enhancement of calcium transport in Caco-2 monolayer through PKCzeta-dependent Cav1.3-mediated transcellular and rectifying paracellular pathways by prolactin. PMID: 19339512
43. Overexpression of the intracellular II-III loop domains of Cav1.2, and possibly Cav1.3, can dislodge the corresponding endogenous channels from the lipid raft regions of the membrane in rat insulinoma (INS-1) cells. PMID: 19351867
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相關(guān)疾病：

Sinoatrial node dysfunction and deafness (SANDD); Primary aldosteronism, seizures, and neurologic abnormalities (PASNA)
亞細(xì)胞定位：

Membrane; Multi-pass membrane protein.
蛋白家族：

Calcium channel alpha-1 subunit (TC 1.A.1.11) family, CACNA1D subfamily
組織特異性：

Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle.
數(shù)據(jù)庫鏈接：

HGNC: 1391

OMIM: 114206

KEGG: hsa:776

STRING: 9606.ENSP00000288139

UniGene: Hs.476358

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