KCNV2 Antibody
Description
Definition and Biological Role
KCNV2 Antibodies are laboratory-generated reagents that bind specifically to the KCNV2 protein. This protein forms heterotetramers with other potassium channel subunits (e.g., Kv2.1), altering their gating properties by shifting activation thresholds to more negative voltages . The canonical human KCNV2 protein has 545 amino acids and a molecular weight of ~62.5 kDa, with expression detected in the lung, kidney, retina, and reproductive organs .
Research Applications
KCNV2 antibodies are critical for:
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Western Blotting: Detecting KCNV2 protein expression in tissue lysates .
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Immunohistochemistry (IHC): Localizing KCNV2 in cell membranes, particularly in retinal neurons .
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Functional Studies: Investigating channel modulation and oligomerization mechanisms .
A Thermo Fisher Scientific polyclonal antibody (PA5-76546) demonstrates >95% purity via SDS-PAGE and is validated for research use .
Association with Retinal Diseases
Mutations in KCNV2 are linked to cone dystrophy with supernormal rod response (CDSRR), a rare autosomal recessive disorder. Key findings include:
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Electroretinogram (ERG) Abnormalities: Patients exhibit delayed photoreceptor responses and increased b-wave latency .
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Genetic Variants: Compound heterozygous mutations (e.g., p.Lys371Ter) disrupt the protein’s extracellular domains, leading to truncated, non-functional channels .
Recent Research Insights
A 2024 study identified novel KCNV2 mutations in pediatric CDSRR cases, highlighting:
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De Novo Mutations: A nonsense duplication (c.1109dup) caused premature protein termination, correlating with severe ERG deficits .
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Therapeutic Targets: Antibodies enable precise localization of Kv8.2 subunits in retinal layers, aiding mechanistic studies .
Key Challenges and Future Directions
Product Specs
Target Background
- A pharmacogenetic and case-control study investigated the role of variants in the KCNA1, KCNA2, and KCNV2 genes in susceptibility and drug resistance to genetic generalized epilepsies. No significant association was found between 8 variants of these genes and the risk or drug resistance of genetic generalized epilepsies after Bonferroni correction for multiple comparisons. PMID: 28658141
- The identification of two novel mutations expands the current understanding of genotype-phenotype descriptions in the literature for Retinal Cone Dystrophy 3B. PMID: 24029832
- This study provides 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
- 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 a consanguineous family, are reported. PMID: 23885164
- Central vision parameters progressively deteriorate 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
- Mutations in KCNV2 cause a unique form of retinal disorder, highlighting the crucial role of K+ channels in the resting potential, activation, and deactivation of photoreceptors, while phototransduction remains unaffected. PMID: 23077521
- A key finding leading to the identification of KCNV2 as a candidate gene for causative mutations was the characteristic pattern observed in full field ERGs. PMID: 23143909
- Two pore mutations (W467G and G478R) resulted in the formation of nonconducting heteromeric Kv2.1/Kv8.2 channels. PMID: 23115240
- KCNV2 sequencing revealed one of three homozygous recessive mutations in all patients. PMID: 21900228
- This study found that KCNV2 mutations are present in a significant portion (2.2-4.3%) of a sample of 367 independent patients with a variety of initial clinical diagnoses of cone malfunction. PMID: 21882291
- In KCNV2 retinopathy, foveal morphological changes are evident on SD-OCT even in the early stages of the disease. PMID: 21558291
- 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
- Results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene. PMID: 21402906
- Individuals with mutations in KCNV2 exhibit a wide range of macular and autofluorescence abnormalities. PMID: 19952985
- Mutations mapped to KCNV2 are responsible for cone dystrophy with supernormal rod electroretinography. PMID: 16909397
- KCNV2 mutations account for most, if not all, cases of cone dystrophy with a supernormal rod electroretinography. The study found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. PMID: 17896311
- The phenotype of cone dystrophy with supernormal rod response is strongly associated with mutations in KCNV2. PMID: 18235024
- 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
- Kv11.1 (ERG1) K+ channels localize in cholesterol and sphingolipid enriched membranes and are modulated by membrane cholesterol. PMID: 18708743
