KCNV2 Antibody, Biotin conjugated

說明書

中文名稱：

KCNV2兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA848410LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) KCNV2 Polyclonal antibody
Uniprot No.：

Q8TDN2
基因名：

KCNV2
別名：

KCNV2; Potassium voltage-gated channel subfamily V member 2; Voltage-gated potassium channel subunit Kv8.2
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Potassium voltage-gated channel subfamily V member 2 protein (1-155AA)
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.

產品評價

靶點詳情

功能：

Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values.
基因功能參考文獻：
1. Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. PMID: 28658141
2. The 2 mutations identified are novel and thus expand the current knowledge of Retinal Cone Dystrophy 3B genotype-phenotype descriptions in the literature. PMID: 24029832
3. This is the first report of genetic and clinical analysis of cone dystrophy with supernormal rod response in the Israeli population leading to the identification of 4 novel KCNV2 mutations. PMID: 23725738
4. Compound heterozygosity for the two alleles of KCNV2, p.C177R and p.G461R, in three patients, and homozygosity for complex alleles, p.R27H and p.R206P, in one patient from the consanguineous family, is reported. PMID: 23885164
5. Central vision parameters progressively worsen in KCNV2 cone dystrophy, structural retinal and lipofuscin accumulation abnormalities are commonly present and macular cone photoreceptor mosaic is markedly disrupted early in the disease. PMID: 23221069
6. KCNV2 mutations cause a unique form of retinal disorder illustrating the importance of K(+)-channels for the resting potential, activation and deactivation of photoreceptors, while phototransduction remains unchanged PMID: 23077521
7. important finding leading to identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern of findings on full field ERGs. PMID: 23143909
8. two pore mutations (W467G and G478R) led to the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels PMID: 23115240
9. For all patients, KCNV2 sequencing revealed one of three homozygous recessive mutations PMID: 21900228
10. In this study, we found that KCNV2 mutations are present in a substantial fraction (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunctino. PMID: 21882291
11. In KCNV2 retinopathy foveal morphological changes are evident on SD-OCT even in the early stages of disease. PMID: 21558291
12. Early ocular phenotype in siblings with a homozygous p.G461R mutation in the KCNV2 gene presented nystagmus, increased light sensitivity, reduced color discrimination, and relative central scotomas. PMID: 21911584
13. Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene. PMID: 21402906
14. Individuals with mutations in KCNV2 manifest a wide range of macular and autofluorescence abnormalities. PMID: 19952985
15. Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electoretinogram. PMID: 16909397
16. KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod electroretinography. We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. PMID: 17896311
17. The phenotype of cone dystrophy with supernormal rod response is tightly linked with mutations in KCNV2. PMID: 18235024
18. The three novel truncative mutations are likely to be null mutations leading to loss of function, with no difference in the phenotype presentation. PMID: 18400204
19. Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. PMID: 18708743
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相關疾病：

Cone dystrophy retinal 3B (RCD3B)
亞細胞定位：

Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.
蛋白家族：

Potassium channel family, V (TC 1.A.1.2) subfamily, Kv8.2/KCNV2 sub-subfamily
組織特異性：

Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
數據庫鏈接：

HGNC: 19698

OMIM: 607604

KEGG: hsa:169522

STRING: 9606.ENSP00000371514

UniGene: Hs.622675

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