Aliases for KCNQ3 Gene
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 Channel, Voltage Gated KQT-Like Subfamily Q, Member 3) is a Protein Coding gene. Diseases associated with KCNQ3 include seizures, benign neonatal, type 2 and kcnq3-related benign familial neonatal epilepsy. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ4.
UniProtKB/Swiss-Prot for KCNQ3 Gene
Probably important in the regulation of neuronal excitability. 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
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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.