cyclic nucleotide gated channel subunit beta 3
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The CNGB3 gene provides instructions for making one part (the beta subunit) of the cyclic nucleotide-gated (CNG) channel. These channels are found exclusively in light-sensing (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye (retina). Cones provide colour vision and vision in bright light (daytime vision). Other photoreceptor cells, called rods, provide vision in low light (night vision).
Normal function
The CNGB3 gene provides instructions for making one part (the beta subunit) of the cyclic nucleotide-gated (CNG) channel. These channels are found exclusively in light-sensing (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye (retina). Cones provide colour vision and vision in bright light (daytime vision). Other photoreceptor cells, called rods, provide vision in low light (night vision).
CNG channels are openings in the cell membrane that transport positively charged atoms (ions) into cells. The CNG channels in cones remain open in low light, allowing ions to flow in. When light enters the eye, these channels close, stopping the flow of ions. This change in ion transport alters the cone's electrical charge, which ultimately generates a signal. This signal is sent to the brain, where it combines with other visual information and is interpreted as vision. The process of translating light into an electrical signal is called phototransduction.
Conditions referring to this gene or chromosome
Other names
ACHM3
achromatopsia (rod monochromacy) 3
cyclic nucleotide gated channel beta 3
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Leitura adicional e referências
- cyclic nucleotide gated channel subunit beta 3; MedlinePlus, National Library of Medicine.
- Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018 Apr;39(2):149-157. doi: 10.1080/13816810.2017.1418389. Epub 2018 Jan 5.
- Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet. 2004 Feb;41(2):e20. doi: 10.1136/jmg.2003.011437. No abstract available.
- Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107.
- Kohl S, Jagle H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. 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/NBK1418/
- Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269.
- Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1975-82. doi: 10.1167/iovs.03-0898.
- Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Achromatopsia: Genetics and Gene Therapy. Mol Diagn Ther. 2022 Jan;26(1):51-59. doi: 10.1007/s40291-021-00565-z. Epub 2021 Dec 3.
- Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162.
- Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 2010 Apr;117(4):825-30.e1. doi: 10.1016/j.ophtha.2009.09.008. Epub 2010 Jan 15.
- Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007 May;121(3-4):433-9. doi: 10.1007/s00439-006-0314-y. Epub 2007 Jan 31.
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