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CNGB1

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Retinal Dystrophy Gene Atlas

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Abstract

CNGB1 encodes one of the two subunits (the other is encoded by CNGA1) of the rod cyclic nucleotide-gated (CNG) channel. These CNG channels in the rod plasma membrane respond to light-mediated concentration changes in cGMP by causing an influx of calcium, creating calcium-gated voltage signals [1, 2]. Mutations in CNGB1 cause autosomal recessive retinitis pigmentosa (RP) [1].

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References

  1. Koch S, Sothilingam V, Garcia Garrido M, Tanimoto N, Becirovic E, Koch F, et al. Gene therapy restores vision and delays degeneration in the CNGB1(−/−) mouse model of retinitis pigmentosa. Hum Mol Genet. 2012;21(20):4486–96.

    Article  PubMed  CAS  Google Scholar 

  2. Paquet-Durand F, Beck S, Michalakis S, Goldmann T, Huber G, Mühlfriedel R, et al. A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa. Hum Mol Genet. 2011;20(5):941–7.

    Article  PubMed  CAS  Google Scholar 

  3. Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum Genet. 2001;108(4):328–34.

    Article  PubMed  CAS  Google Scholar 

  4. Bocquet B, Marzouka NA, Hebrard M, Manes G, Sénéchal A, Meunier I, et al. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Mol Vis. 2013;19:2487–500.

    PubMed  PubMed Central  CAS  Google Scholar 

  5. Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, et al. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest Ophthalmol Vis Sci. 2004;45(12):4433–9.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA

    Sarwar Zahid MS, MD, Kari Branham MS, CGC, Dana Schlegel MS, MPH, CGC, John Heckenlively MD & Thiran Jayasundera MD

  2. Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA

    Mark E. Pennesi MD, PhD

  3. Institute of Ophthalmology, Moorfields Eye Hospital UCL, London, UK

    Michel Michaelides MB, MD

Authors
  1. Sarwar Zahid MS, MD
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  2. Kari Branham MS, CGC
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  3. Dana Schlegel MS, MPH, CGC
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  4. Mark E. Pennesi MD, PhD
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  5. Michel Michaelides MB, MD
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  6. John Heckenlively MD
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  7. Thiran Jayasundera MD
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Zahid, S. et al. (2018). CNGB1 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_21

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  • DOI: https://doi.org/10.1007/978-3-319-10867-4_21

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-10866-7

  • Online ISBN: 978-3-319-10867-4

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