人 KCNQ2 (NM_172108) cDNA克隆

Accession: NM_172108
基因名称: KCNQ2
基因别名: EBN; BFNC; EBN1; ENB1; BFNS1; EIEE7; HNSPC; KV7.2; KCNA11; KVEBN1
基因描述: Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 4, mRNA.
种属: Human
CDS区长度: 2526 (查看编码区序列)
翻译后氨基酸长度: 841 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks two alternate in-frame coding segments compared to variant 1, resulting in a shorter isoform (d) compared to isoform a. The 3' UTR of this variant has not been fully characterized.
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G101616 人 KCNQ2 (NM_172108) cDNA克隆 pDONR223 2ug质粒 点击询价

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]