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Rabbit Anti-KCNT1 Recombinant Antibody (EG1774) (CBMAB-EN2113-LY)

The product is antibody recognizes KCNT1. The antibody EG1774 immunoassay techniques such as: IHC: 1:50~1:100 ELISA: 1:10000.
See all KCNT1 antibodies

Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
EG1774
Antibody Isotype
IgG
Application
IHC: 1:50~1:100 ELISA: 1:10000

Basic Information

Immunogen
The antibody was produced against synthesized peptide derived from C-terminal of human KCNT1.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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
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 sodium-activated channel subfamily T member 1
Introduction
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants.
Entrez Gene ID
Human57582
Mouse227632
Rat60444
UniProt ID
HumanQ5JUK3
MouseQ6ZPR4
RatQ9Z258
Alternative Names
DEE14; ENFL5; SLACK; EIEE14; KCa4.1; Slo2.2; bA100C15.2
Function
Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).
Cellular Location
Cell membrane
Involvement in disease
Developmental and epileptic encephalopathy 14 (DEE14):
A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.
Epilepsy, nocturnal frontal lobe, 5 (ENFL5):
An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy.
Topology
Cytoplasmic: 1-97
Helical: 98-118
Extracellular: 119-155
Helical: 156-176
Cytoplasmic: 177-187
Helical: 188-208
Extracellular: 209-213
Helical: 214-226
Cytoplasmic: 227-251
Helical: 252-272
Extracellular: 273-281
Pore-forming: 282-302
Extracellular: 303-304
Helical: 305-325
Cytoplasmic: 326-1230
PTM
Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By similarity).

Cole, B. A., Clapcote, S. J., Muench, S. P., & Lippiat, J. D. (2021). Targeting KNa1. 1 channels in KCNT1-associated epilepsy. Trends in Pharmacological Sciences, 42(8), 700-713.

Bonardi, C. M., Heyne, H. O., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B., ... & Rubboli, G. (2021). KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Brain, 144(12), 3635-3650.

Borlot, F., Abushama, A., Morrison‐Levy, N., Jain, P., Puthenveettil Vinayan, K., Abukhalid, M., ... & Whitney, R. (2020). KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases. Epilepsia, 61(4), 679-692.

Cole, B. A., Johnson, R. M., Dejakaisaya, H., Pilati, N., Fishwick, C. W., Muench, S. P., & Lippiat, J. D. (2020). Structure-based identification and characterization of inhibitors of the epilepsy-associated KNa1. 1 (KCNT1) potassium channel. IScience, 23(5).

Quraishi, I. H., Mercier, M. R., McClure, H., Couture, R. L., Schwartz, M. L., Lukowski, R., ... & Kaczmarek, L. K. (2020). Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1. 1) Na+-activated K+ channels. Scientific Reports, 10(1), 3213.

Barcia, G., Chemaly, N., Kuchenbuch, M., Eisermann, M., Gobin-Limballe, S., Ciorna, V., ... & Nabbout, R. (2019). Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability. Neurology Genetics, 5(6).

Quraishi, I. H., Stern, S., Mangan, K. P., Zhang, Y., Ali, S. R., Mercier, M. R., ... & Kaczmarek, L. K. (2019). An epilepsy-associated KCNT1 mutation enhances excitability of human iPSC-derived neurons by increasing slack KNa currents. Journal of Neuroscience, 39(37), 7438-7449.

Gertler, T., Bearden, D., Bhattacharjee, A., & Carvill, G. (2018). KCNT1-related epilepsy.

McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E. V., ... & Kurian, M. A. (2018). Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology, 90(1), e55-e66.

Abdelnour, E., Gallentine, W., McDonald, M., Sachdev, M., Jiang, Y. H., & Mikati, M. A. (2018). Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature. Seizure, 55, 1-3.

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

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