KCNQ4 Gene

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Liu, D. KCNQ4 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4306 (accessed on 29 September 2026).

Liu D. KCNQ4 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4306. Accessed September 29, 2026.

Liu, Dean. "KCNQ4 Gene" Encyclopedia, https://encyclopedia.pub/entry/4306 (accessed September 29, 2026).

Liu, D. (2020, December 23). KCNQ4 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4306

Liu, Dean. "KCNQ4 Gene." Encyclopedia. Web. 23 December, 2020.

KCNQ4 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcnq4

Potassium voltage-gated channel subfamily Q member 4

genes

References

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, MeyersJ, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G.Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness infour DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8.
Gao Y, Yechikov S, Vázquez AE, Chen D, Nie L. Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss. J Cell MolMed. 2013 Jul;17(7):889-900. doi: 10.1111/jcmm.12080.
Kim HJ, Lv P, Sihn CR, Yamoah EN. Cellular and molecular mechanisms ofautosomal dominant form of progressive hearing loss, DFNA2. J Biol Chem. 2011 Jan14;286(2):1517-27. doi: 10.1074/jbc.M110.179010.
Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S,Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell. 1999 Feb 5;96(3):437-46.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S. Comprehensive genetic screening of KCNQ4 in a largeautosomal dominant nonsyndromic hearing loss cohort: genotype-phenotypecorrelations and a founder mutation. PLoS One. 2013 May 23;8(5):e63231. doi:10.1371/journal.pone.0063231. Print 2013.
Smith RJH, Hildebrand M. DFNA2 Nonsyndromic Hearing Loss. 2008 Apr 4 [updated 2018 May 10]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1209/

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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