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From Wikipedia, the free encyclopedia

KCNQ3
Identifiers
AliasesKCNQ3, BFNC2, EBN2, KV7.3, potassium voltage-gated channel subfamily Q member 3
External IDsOMIM: 602232 MGI: 1336181 HomoloGene: 20949 GeneCards: KCNQ3
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001204824
NM_004519

NM_152923

RefSeq (protein)

NP_001191753
NP_004510

NP_690887

Location (UCSC)Chr 8: 132.12 – 132.48 MbChr 15: 65.86 – 66.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Kv7.3 (KvLQT3) is a potassium channel protein coded for by the gene KCNQ3.[5]

It is associated with benign familial neonatal epilepsy.

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 one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, 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 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2).[5]

Interactions

KvLQT3 has been shown to interact with KCNQ5.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000184156 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056258 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: KCNQ3 potassium voltage-gated channel, KQT-like subfamily, member 3".
  6. ^ Yus-Nájera, E; Muñoz A; Salvador N; Jensen B S; Rasmussen H B; Defelipe J; Villarroel A (2003). "Localization of KCNQ5 in the normal and epileptic human temporal neocortex and hippocampal formation". Neuroscience. 120 (2): 353–64. doi:10.1016/S0306-4522(03)00321-X. ISSN 0306-4522. PMID 12890507. S2CID 38381189.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This page was last edited on 16 October 2022, at 23:46
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