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- Table of Contents
Facts about Potassium voltage-gated channel subfamily B member 1.
Plays also a part in the regulation of exocytosis independently of its electric function (By similarity). Forms tetrameric potassium- selective channels through which potassium ions pass in accordance with their electrochemical gradient.
Human | |
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Gene Name: | KCNB1 |
Uniprot: | Q14721 |
Entrez: | 3745 |
Belongs to: |
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potassium channel family |
Potassium voltage-gated channel subfamily B member 1
Mass (kDA):
95.878 kDA
Human | |
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Location: | 20q13.13 |
Sequence: | 20; NC_000020.11 (49363877..49484033, complement) |
Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074135). Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra (PubMed:19074135).
Cell membrane. Perikaryon. Cell projection, axon. Cell projection, dendrite. Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse. Cell junction, synapse, synaptosome. Lateral cell membrane. Cell membrane, sarcolemma. Localizes to high-density somatodendritic clusters and non-clustered sites on the surface of neocortical and hippocampal pyramidal neurons in a cortical actin cytoskeleton-dependent manner (PubMed:24477962). Localizes also to high-density clusters in the axon initial segment (AIS), at ankyrin-G-deficient sites, on the s
If you're interested in using a KCNB1 marker to identify human cancer cells, then you've come to the right place. We'll review the KCNB1 Marker's benefits and use it in conjunction with YAP-XP. Read on to learn more about the two tools. There's no better time to buy them than now. And, while you're there, we'll share some tips on how to use them in a lab.
The best uses of the KCNB1 marker are associated with various disorders of the brain. The disease is associated with severe early onset seizures and developmental delay. The disorder is the result of a genetic disorder, KCNB1, and can affect the brain development of children. Fortunately, the availability of genetic testing has led to the diagnosis of KCNB1 encephalopathy in many cases. Its diagnosis is made through molecular genetic testing using a whole exome sequencing or epilepsy gene panel.
The KCNB1 marker has been used to detect early gastric cancer. The gene is also known as KCNA5. The KCNB1 protein is present in all tumor tissues, and its expression levels can be determined by quantitative PCR. The KCNB1 gene can be used to measure the expression level of the KCNA5 protein. It is also useful for identifying the presence of gastric cancer by measuring the level of KCNA5.
One recent study from the Epi4K consortium found a mutation in individual 3 with epileptic encephalopathy (WES). The mutated gene had a t374I mutation in the prepore transmembrane domain. There were no other de novo mutations identified. The T374I mutation was located in the pore domain of KV2.1 and was predicted to be deleterious by functional impact algorithms.
The KCNB1 gene encodes a protein that is involved in voltage-gated potassium channels. It has been implicated in gastric and uterine cancers. It also forms complexes with the voltage-gated potassium alpha-subunits. It inhibits proliferation of human colon cells. It has been linked to the KCNA5 gene, which encodes the Kv1.5 channel. The KCNA5 gene is also a potassium channel, and it has been reported to be present on the surface of colorectal cancer cell lines.
The most common mutations found in KCNB1 are point mutations. These mutations result in a change in an amino acid within the KV2.1 protein. Specific point mutations have been found in patients with unrelated disorders. They differ in clinical features and result in different proteins. In addition, patients with truncating or frameshift variants show a reduced ability of the potassium channel to function properly.
In addition to its role in neuronal excitability regulation, the KCNB1 channel is implicated in oxidative stress. Its presence in the brain has been linked to oxidative stress and neuroinflammation, both of which are associated with cognitive impairment. If these mechanisms are impaired, they may also contribute to the pathology of the disease. And if KCNB1 is impaired, this can lead to an increased risk of death and disability.
A monoclonal antibody recognizes the carboxy terminus of human YAP proteins. The antibody's epitope resides on the region surrounding pro-435 in human YAP isoform 1. It is 100% conserved in all isoforms of human YAP. YAP is a nuclear membrane protein involved in the regulation of cell growth and differentiation.
This marker detects changes in the KCNB1 gene, a mutation affecting one amino acid. Patients with this genetic variant have distinct clinical features and the disease is associated with different proteins. Unlike the other variants, the KCNB1 marker is more accurate in patients with encephalopathy due to less severe clinical symptoms. The KCNB1 gene is involved in the production of KV2.1, a potassium channel involved in neurotransmission.
Using a patient-derived GSC model, we can identify subtypes based on KCNB1 expression. The b3/Glut3 marker is expressed at low levels in GSC models. Moreover, all established GBM cell lines have high levels of avb3 and Glut3.
Interestingly, this genetic marker is associated with developmental and epileptic encephalopathies. The gene encoding the KCNB1 protein encodes the voltage-gated potassium channel KV2.1. These currents regulate excitability in electrically excitable cells. They organize endoplasmic reticulum-plasma membrane junctions, which cluster in the soma and proximal dendrites.
A monoclonal antibody was generated by immunizing animals with a recombinant human YAP protein. The antibody recognizes the carboxy terminus of the YAP protein, which contains the region surrounding Pro435 in human YAP isoform 1. This epitope is 100% conserved in all known isoforms of the YAP protein. It can be used to detect endogenous levels of YAP.
The KCNB1 encephalopathy variant is an autosomal dominant disease, meaning that it may be inherited from either parent or acquired de novo in the affected child. The patient's risk of passing a non-working gene to their offspring is 50% for each pregnancy. The disease is equally likely in males and females. In addition, there is a genetic marker for the KCNB1 gene.
PMID: 8081723 by Albrecht B., et al. Cloning and characterization of a human delayed rectifier potassium channel gene.
PMID: 1283219 by Ikeda S.R., et al. Heterologous expression of the human potassium channel Kv2.1 in clonal mammalian cells by direct cytoplasmic microinjection of cRNA.