Aliases for KCNQ3 Gene
- Potassium Voltage-Gated Channel Subfamily Q Member 3 2 3 5
- Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 3 2 3
- Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 3 2 3
- Voltage-Gated Potassium Channel Subunit Kv7.3 3 4
- Potassium Channel Subunit Alpha KvLQT3 3 4
- Potassium Channel, Voltage-Gated, Subfamily Q, Member 3 3
External Ids for KCNQ3 Gene
Previous HGNC Symbols for KCNQ3 Gene
Previous GeneCards Identifiers for KCNQ3 Gene
This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
GeneCards Summary for KCNQ3 Gene
KCNQ3 (Potassium Voltage-Gated Channel Subfamily Q Member 3) is a Protein Coding gene. Diseases associated with KCNQ3 include Seizures, Benign Neonatal, Type 2 and Benign Familial Neonatal Epilepsy. Among its related pathways are Potassium Channels and Interaction between L1 and Ankyrins. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ2.
UniProtKB/Swiss-Prot for KCNQ3 Gene
Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability.
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.