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- Table of Contents
Facts about Potassium voltage-gated channel subfamily C member 1.
Can form functional homotetrameric channels and heterotetrameric channels which 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.
Human | |
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Gene Name: | KCNC1 |
Uniprot: | P48547 |
Entrez: | 3746 |
Belongs to: |
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potassium channel family |
FLJ41162; FLJ42249; FLJ43491; KCNC1; KV3.1; KV4; MGC129855; NGK2; Potassium Channel Kv3.1; potassium voltage-gated channel subfamily C member 1; potassium voltage-gated channel, Shaw-related subfamily, member 1; voltage-gated potassium channel protein KV3.1; Voltage-gated potassium channel subunit Kv3.1; Voltage-gated potassium channel subunit Kv4
Mass (kDA):
57.942 kDA
Human | |
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Location: | 11p15.1 |
Sequence: | 11; NC_000011.10 (17734781..17783057) |
Cell membrane; Multi-pass membrane protein. 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.
ELISA kits to detect KCNC1 are a vital component of diagnostic testing. They are sensitive to picogram levels, and can be used with a wide variety of samples. These kits can detect variants KCNC1 in a way that is difficult or impossible to detect using other methods. This article will explore the many uses of ELISA kit for KCNC1 as well as the different sensitivity levels.
The gene KCNC1 controls the expression of the Kv 3.1 subunit. Pathogenic KCNC1 variants cause developmental encephalopathy, progressive myoclonus epilepsy, and MEAK. The KCNC1 variants are associated with a elusive genotype/phenotype correlation. Although the mutations can be difficult to detect, they have significant clinical consequences.
They are found in a very small percentage of cells, making it difficult or impossible to identify them. Pathogenic KCNC1 mutants can cause more symptoms then non-pathogenic KCNC1 versions. Because of their low level, variants may be difficult to detect. This mutation cannot be detected without an extensive analysis.
It is difficult to detect loss-of function KCNC1 mutations. Only one DEE patient has been identified with a KCNC1 variant missense variant. This patient died of cardiorespiratory collapse at six months old. EIFMS is not a common condition. Genetic testing of 77 gene panel panels showed no other cause. This mutation is considered to be a variant that is uncertain in significance, as it only occurs once in gnomAD.
Epilepsy is a common clinical symptom for KCNC1 encephalopathy. The seizures typically begin in the late infancy or early child years, and can be difficult to control. In children, focal dyscognitive seizures may be the first seizure type. Although the seizures may not be obvious and can be difficult to identify, about one-fourth to one-quarter of patients will experience an abnormal EEG. The EEG signals showing a continuous spike wave are called electrical status epilepticus.
A large percentage of patients with spinocerebellar encephalopathy have a variant at KCNC1. In the same study, Schelhaas HJ and van de Warrenburg BP characterized a case of MEAK caused by a KCNC1 p.R320H. This mutation is difficult to detect in humans, but there are several methods for diagnosing MEAK.
The genetics and causes of KCNB1 encephalopathy still remain a mystery. Point mutations are the most common type of KCNB1 encephalopathy. These occur when an amino acid in the KV2.1 proteins is altered. However, KCNB1 is a condition that can cause encephalopathy de novo. It is very difficult to diagnose KCNB1 encephalopathy as it is so rare.
ELISA, which stands for enzyme-linked antibodysorbent assay, has become a very popular method of detecting and quantifying the proteins in biological samples. It works on the principle of specific antibodies binding to a target antibody. The detection system measures how much antigen is bound to a substance in a sample. The data can then be analyzed by graphing and analyzing the sigmoidal curve. Boster Bio KCNC1 ELISA kits are among the most sensitive available, and are backed by 20 years of manufacturing expertise.
Steven Boster was developed in 1993. He was given the nickname "he who converts science to the lavatory". From there, he created a variety of IHC products and hundreds primary antibodies. In the late 1990s, he became the largest antibody catalog in China. His innovations included the development of a proprietary ELISA platform called PicoKine(tm). This proprietary platform is used by the KCNC1 ELISA kits to provide high sensitivity.
The ELISA process involves many decisions: the sample preparation technique, the reagent concentrate, and the blocking agent. The Boster Bio PicokineTM ELISA kits have a 96-well format and removable strips. To avoid any mistakes, make sure you read the manufacturer's troubleshooting manual and follow the instructions. The KCNC1 ELISA set provides a comprehensive overview of the ELISA principle as well as the various types of ELISA techniques.
Boster Bio's KCNC1 ELISA Kit is highly sensitive and specific with high detection limits. Its broad range of sample types provides an unprecedented level of sample sensitivity. Its versatile design facilitates sample dilution, allowing a rapid and convenient QC analysis. The kits have been validated for the detection of KCNC1 in samples ranging from human plasma to tissue culture cultures.
PMID: 8449507 by Ried T., et al. Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15.
PMID: 1400413 by Grissmer S., et al. The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells.