KCNH5 explained

Potassium voltage-gated channel, subfamily H (eag-related), member 5, also known as KCNH5, is a human gene encoding the K_v10.2 protein.^[1]

Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not expressed in differentiating myoblasts. Alternative splicing results in three transcript variants encoding distinct isoforms.^[2]

Mutations in this gene have been linked to cases of early onset Epilepsy.(10.1111/epi.12201)

Further reading

Gutman GA, Chandy KG, Grissmer S, etal . International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. . Pharmacol. Rev. . 57 . 4 . 473–508 . 2006 . 16382104 . 10.1124/pr.57.4.10 . 219195192 .
Occhiodoro T, Bernheim L, Liu JH, etal . Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. . FEBS Lett. . 434 . 1–2 . 177–82 . 1998 . 9738473 . 10.1016/S0014-5793(98)00973-9 . free .
Volorio S, Simon G, Repetto M, etal . Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein. . DNA Seq. . 9 . 5–6 . 307–15 . 1999 . 10524757 . 10.3109/10425179809008469 .
Schönherr R, Gessner G, Löber K, Heinemann SH . Functional distinction of human EAG1 and EAG2 potassium channels. . FEBS Lett. . 514 . 2–3 . 204–8 . 2002 . 11943152 . 10.1016/S0014-5793(02)02365-7 . free .
Ju M, Wray D . Molecular identification and characterisation of the human eag2 potassium channel. . FEBS Lett. . 524 . 1–3 . 204–10 . 2002 . 12135768 . 10.1016/S0014-5793(02)03055-7 . free .
Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
Otsuki T, Ota T, Nishikawa T, etal . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. . DNA Res. . 12 . 2 . 117–26 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .

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