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[[File:4jta.1 1 chimera colorbysym 1000 1000.png|thumb]] [[File:4jta.1 0 chimera colorbysym 1000 1000.png|thumb]] {{Short description|Detailed article on KCNB1 for medical students}}


'''KCNB1''' is a gene that encodes the voltage-gated potassium channel subunit Kv2.1, which is crucial for the regulation of electrical signaling in neurons and other excitable cells. This article provides an in-depth overview of the KCNB1 gene, its protein product, physiological roles, and clinical significance.
{{Infobox gene
| name = KCNB1
| image = <!-- Image of the gene or protein, if available -->
| caption = <!-- Caption for the image -->
| HGNCid = 6258
| symbol = KCNB1
| alt_symbols = Kv2.1
| EntrezGene = 3745
| OMIM = 616056
| RefSeq = NM_004975
| UniProt = Q14721
| chromosome = 20
| arm = q
| band = 13
}}


==Structure and Function==
'''KCNB1''' is a gene that encodes the voltage-gated potassium channel subunit Kv2.1. This channel is crucial for the regulation of electrical signaling in neurons and other excitable cells.  
The KCNB1 gene is located on chromosome 20q13.13 and consists of multiple exons that encode the Kv2.1 protein. Kv2.1 is a member of the voltage-gated potassium channel family, which is characterized by its ability to conduct potassium ions across the cell membrane in response to changes in membrane potential.


===Protein Structure===
== Function ==
Kv2.1 is a tetrameric protein, meaning it forms a functional channel by assembling four identical subunits. Each subunit consists of six transmembrane segments (S1-S6) with a pore loop between S5 and S6 that forms the ion-conducting pathway. The S4 segment acts as the voltage sensor, containing positively charged residues that respond to changes in membrane potential.
The [[KCNB1]] gene product, Kv2.1, is a major component of the delayed rectifier potassium current in neurons. It plays a critical role in repolarizing the membrane potential following an action potential, thereby influencing neuronal excitability and firing patterns.


===Physiological Role===
== Clinical Significance ==
Kv2.1 channels are widely expressed in the central nervous system, particularly in neurons. They play a critical role in repolarizing the membrane potential following an action potential, thus regulating neuronal excitability and firing patterns. Kv2.1 channels also contribute to the regulation of neurotransmitter release and synaptic plasticity.
Mutations in the [[KCNB1]] gene have been associated with a range of neurological disorders, including developmental and epileptic encephalopathy. These mutations can lead to altered channel function, which disrupts normal neuronal activity and can result in seizures and developmental delays.


==Clinical Significance==
== Structure ==
Mutations in the KCNB1 gene have been associated with a range of neurological disorders, including developmental and epileptic encephalopathies. These conditions are characterized by severe epilepsy, developmental delay, and intellectual disability.
Kv2.1 channels are composed of four identical subunits, each containing six transmembrane segments. The channel's pore is formed by the arrangement of these subunits, allowing selective passage of potassium ions.


===Genetic Mutations===
== Expression ==
Several pathogenic variants of KCNB1 have been identified, including missense, nonsense, and frameshift mutations. These mutations can lead to either gain-of-function or loss-of-function effects on the Kv2.1 channel, disrupting normal neuronal function.
The [[KCNB1]] gene is widely expressed in the central nervous system, particularly in the [[cerebral cortex]], [[hippocampus]], and [[cerebellum]]. Its expression is crucial for maintaining normal neuronal function and excitability.


===Disease Mechanisms===
== Interactions ==
The exact mechanisms by which KCNB1 mutations cause disease are still under investigation. However, it is believed that altered Kv2.1 channel activity can lead to abnormal neuronal excitability, contributing to the development of seizures and other neurological symptoms.
Kv2.1 channels interact with various proteins that modulate their function and localization. These interactions are important for the precise regulation of neuronal signaling.


==Research and Therapeutic Approaches==
== Research ==
Research into KCNB1 and its associated pathologies is ongoing, with efforts focused on understanding the molecular mechanisms underlying channel dysfunction and developing targeted therapies. Potential therapeutic strategies include the use of small molecules to modulate channel activity and gene therapy approaches to correct genetic defects.
Ongoing research is focused on understanding the detailed mechanisms by which KCNB1 mutations lead to neurological disorders. This research aims to develop targeted therapies that can correct or compensate for the dysfunctional channels.


==Also see==
== See Also ==
* [[Voltage-gated potassium channel]]
* [[Voltage-gated potassium channel]]
* [[Neuronal excitability]]
* [[Neuronal excitability]]
* [[Epileptic encephalopathy]]
* [[Epileptic encephalopathy]]
* [[Ion channelopathy]]


== References ==
<references/>
== External Links ==
* [https://www.ncbi.nlm.nih.gov/gene/3745 KCNB1 Gene - NCBI]
* [https://www.omim.org/entry/616056 KCNB1 - OMIM]
{{Potassium channels}}
{{Ion channels}}
{{Ion channels}}
{{Genetics}}


[[Category:Genes on human chromosome 20]]
[[Category:Ion channels]]
[[Category:Ion channels]]
[[Category:Genetics]]
[[Category:Potassium channels]]
[[Category:Neurology]]
[[Category:Neurological disorders]]

Revision as of 20:24, 30 December 2024


KCNB1
Symbol KCNB1
HGNC ID 6258
Alternative symbols –
Entrez Gene 3745
OMIM 616056
RefSeq NM_004975
UniProt Q14721
Chromosome 20q13
Locus supplementary data –


KCNB1 is a gene that encodes the voltage-gated potassium channel subunit Kv2.1. This channel is crucial for the regulation of electrical signaling in neurons and other excitable cells.

Function

The KCNB1 gene product, Kv2.1, is a major component of the delayed rectifier potassium current in neurons. It plays a critical role in repolarizing the membrane potential following an action potential, thereby influencing neuronal excitability and firing patterns.

Clinical Significance

Mutations in the KCNB1 gene have been associated with a range of neurological disorders, including developmental and epileptic encephalopathy. These mutations can lead to altered channel function, which disrupts normal neuronal activity and can result in seizures and developmental delays.

Structure

Kv2.1 channels are composed of four identical subunits, each containing six transmembrane segments. The channel's pore is formed by the arrangement of these subunits, allowing selective passage of potassium ions.

Expression

The KCNB1 gene is widely expressed in the central nervous system, particularly in the cerebral cortex, hippocampus, and cerebellum. Its expression is crucial for maintaining normal neuronal function and excitability.

Interactions

Kv2.1 channels interact with various proteins that modulate their function and localization. These interactions are important for the precise regulation of neuronal signaling.

Research

Ongoing research is focused on understanding the detailed mechanisms by which KCNB1 mutations lead to neurological disorders. This research aims to develop targeted therapies that can correct or compensate for the dysfunctional channels.

See Also

References

<references/>

External Links



Potassium channels
Types
Related proteins
Pharmacology
Related articles
This Potassium channel related article is a stub.









see also disorders
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