potassium voltage-gated channel subfamily Q member 4
Última actualización 18 Aug 2020
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El KCNQ4 gene provides instructions for making a protein that is part of a family of potassium channels. These channels transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels play a key role in the ability of cells to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its location in the body. Potassium channels made with the KCNQ4 protein are found in certain cells of the inner ear and along part of the nerve pathway from the ear to the brain (the auditory pathway). To a lesser extent, KCNQ4 potassium channels are also found in the heart and some other muscles.
Normal function
El KCNQ4 gene provides instructions for making a protein that is part of a family of potassium channels. These channels transport positively charged potassium atoms (potassium ions) between neighboring cells. The channels play a key role in the ability of cells to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its location in the body. Potassium channels made with the KCNQ4 protein are found in certain cells of the inner ear and along part of the nerve pathway from the ear to the brain (the auditory pathway). To a lesser extent, KCNQ4 potassium channels are also found in the heart and some other muscles.
Because KCNQ4 potassium channels are present in the inner ear and auditory pathway, researchers have focused on their role in hearing. Hearing requires the conversion of sound waves to electrical nerve signals, which are then transmitted to the brain. This conversion involves many processes, including maintenance of the proper levels of potassium ions in the inner ear. KCNQ4 channels help to maintain these levels, playing a critical role in the efficient transmission of electrical nerve signals from the inner ear to the brain.
Conditions referring to this gene or chromosome
Otros nombres
DFNA2
KCNQ4_HUMAN
KQT-like 4
KV7.4
potassium channel, voltage gated KQT-like subfamily Q, member 4
potassium voltage-gated channel, KQT-like subfamily, member 4
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Lecturas adicionales y referencias
- potassium voltage-gated channel subfamily Q member 4; MedlinePlus, National Library of Medicine.
- Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, 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 in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8. doi: 10.1093/hmg/8.7.1321.
- Gao Y, Yechikov S, Vazquez AE, Chen D, Nie L. Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss. J Cell Mol Med. 2013 Jul;17(7):889-900. doi: 10.1111/jcmm.12080. Epub 2013 Jun 11.
- Kim HJ, Lv P, Sihn CR, Yamoah EN. Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. J Biol Chem. 2011 Jan 14;286(2):1517-27. doi: 10.1074/jbc.M110.179010. Epub 2010 Oct 21.
- Kojima T, Wasano K, Takahashi S, Homma K. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss. Dis Model Mech. 2021 Nov 1;14(11):dmm049015. doi: 10.1242/dmm.049015. Epub 2021 Nov 26.
- Kubisch C, Schroeder BC, Friedrich T, Lutjohann 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. doi: 10.1016/s0092-8674(00)80556-5.
- 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 large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013.
- Rim JH, Choi JY, Jung J, Gee HY. Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss. Int J Mol Sci. 2021 Mar 2;22(5):2510. doi: 10.3390/ijms22052510.
- Smith RJH, Hildebrand M. DFNA2 Nonsyndromic Hearing Loss. 2008 Apr 4 [updated 2018 May 10]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1209/
- Zheng H, Yan X, Li G, Lin H, Deng S, Zhuang W, Yao F, Lu Y, Xia X, Yuan H, Jin L, Yan Z. Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4. Genome Res. 2022 Aug 25;32(8):1573-1584. doi: 10.1101/gr.276562.122.
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