KCNA2
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Potassium voltage-gated channel subfamily A member 2 also known as Kv1.2 is a protein that in humans is encoded by the KCNA2 gene.[1][2]
Function
[edit | edit source]Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1.[2]
Interactions
[edit | edit source]KCNA2 has been shown to interact with KCNA4,[3] DLG4,[4] PTPRA,[5] KCNAB2,[3][6] RHOA[7] and Cortactin.[8]
Clinical significance
[edit | edit source]Mutations in this gene cause KCNA2-related disorders. These can include epilepsy, intellectual and developmental disabilities, movement disorders, autism spectrum disorder, attention deficit hyperactivity disorder, and hereditary spastic paraplegia.[9][10]
See also
[edit | edit source]References
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Further reading
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External links
[edit | edit source]- Kv1.2+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- KCNA2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.