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Mouse Anti-KCNC1 Recombinant Antibody (S16B-8) (CBMAB-K0048-LY)

This product is antibody recognizes KCNC1. The antibody S16B-8 immunoassay techniques such as: ICC, IHC, IP, WB.
See all KCNC1 antibodies

Summary

Host Animal
Mouse
Specificity
Rat
Clone
S16B-8
Antibody Isotype
IgG1
Application
ICC, IHC, IP, WB

Basic Information

Specificity
Rat
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
50% Glycerol
Preservative
0.09% sodium azide
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
potassium voltage-gated channel subfamily C member 1
Introduction
This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
Entrez Gene ID
25327
UniProt ID
P25122
Alternative Names
Kv4; Kv3.1; KShIIIB; NGK2-KV4
Function
Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298).
Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.
Biological Process
Cellular response to xenobiotic stimulusIEA:Ensembl
Cerebellum developmentIEA:Ensembl
Globus pallidus developmentIEA:Ensembl
Positive regulation of voltage-gated potassium channel activityIEA:Ensembl
Potassium ion transmembrane transportISS:UniProtKB
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Protein homooligomerizationIEA:InterPro
Protein tetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Response to amineIEA:Ensembl
Response to auditory stimulusIEA:Ensembl
Response to fibroblast growth factorIEA:Ensembl
Response to light intensityIEA:Ensembl
Response to nerve growth factorIEA:Ensembl
Response to potassium ionIEA:Ensembl
Response to toxic substanceIEA:Ensembl
Cellular Location
Cell membrane; Cell projection, axon; Cell junction, synapse, presynaptic cell membrane. Localizes in parallel fiber membranes, distributed on the perisynaptic and extrasynaptic membranes away from the active zones.
Involvement in disease
Epilepsy, progressive myoclonic 7 (EPM7):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients.
Topology
Cytoplasmic: 1-190
Helical: 191-209
Extracellular: 248-267
Helical: 268-276
Cytoplasmic: 277-295
Helical: 309-331
Extracellular: 332-344
Helical: 345-366
Helical: 415-436
Cytoplasmic: 437-511
PTM
N-glycosylated; contains sialylated glycans.

Clatot, J., Ginn, N., Costain, G., & Goldberg, E. M. (2023). A KCNC1‐related neurological disorder due to gain of Kv3. 1 function. Annals of Clinical and Translational Neurology, 10(1), 111-117.

Ambrosino, P., Ragona, F., Mosca, I., Vannicola, C., Canafoglia, L., Solazzi, R., ... & Taglialatela, M. (2023). A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy:“Precision medicine” approach with fluoxetine. Epilepsia, 64(7), e148-e155.

Carpenter, J. C., Männikkö, R., Heffner, C., Heneine, J., Sampedro‐Castañeda, M., Lignani, G., & Schorge, S. (2021). Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. Epilepsia, 62(5), 1256-1267.

Zhang, Y., Ali, S. R., Nabbout, R., Barcia, G., & Kaczmarek, L. K. (2021). A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. Journal of Neurophysiology, 126(2), 532-539.

Barot, N., Margiotta, M., Nei, M., & Skidmore, C. (2020). Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature. Epileptic Disorders, 22(5), 654-658.

Park, J., Koko, M., Hedrich, U. B., Hermann, A., Cremer, K., Haberlandt, E., ... & Haack, T. B. (2019). KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum. Annals of clinical and translational neurology, 6(7), 1319-1326.

Cameron, J. M., Maljevic, S., Nair, U., Aung, Y. H., Cogné, B., Bézieau, S., ... & Berkovic, S. F. (2019). Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations. Annals of clinical and translational neurology, 6(7), 1263-1272.

Kim, H., Lee, S., Choi, M., Kim, H., Hwang, H., Choi, J., ... & Lim, B. C. (2018). Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p. Arg320His mutation. Brain and Development, 40(5), 429-432.

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For research use only. Not intended for any clinical use.

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