KCNB1: Difference between revisions
CSV import |
No edit summary |
||
| (5 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{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 | |||
}} | |||
'''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 == | == Function == | ||
The KCNB1 gene product, Kv2.1, is | 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 == | == Structure == | ||
Kv2.1 | 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 == | == Expression == | ||
KCNB1 is | 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 | 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 == | == Research == | ||
Ongoing research is focused on understanding the | 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 == | == See Also == | ||
* [[Voltage-gated potassium channel]] | * [[Voltage-gated potassium channel]] | ||
* [[Neuronal | * [[Neuronal excitability]] | ||
* [[ | * [[Epileptic encephalopathy]] | ||
== External Links == | == External Links == | ||
* [https://www.ncbi.nlm.nih.gov/gene/3745 KCNB1 Gene - NCBI] | |||
* [https://www.omim.org/entry/616056 KCNB1 - OMIM] | |||
[[Category:Genes]] | {{Potassium channels}} | ||
[[Category:Genes on human chromosome 20]] | |||
[[Category:Ion channels]] | [[Category:Ion channels]] | ||
[[Category: | [[Category:Potassium channels]] | ||
[[Category: | [[Category:Neurological disorders]] | ||
Latest revision as of 03:05, 9 March 2025
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
External Links[edit]
| Potassium channels | ||||||||
|---|---|---|---|---|---|---|---|---|
This Potassium channel related article is a stub.
|
