
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
CNGB1
Introduction
Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.[1]
Further reading
Further reading
- Hofmann F, Biel M, Kaupp UB (2006). “International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels”. Pharmacol. Rev. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102.
- Kondo H, Qin M, Mizota A, et al. (2005). “A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers”. Invest. Ophthalmol. Vis. Sci. 45 (12): 4433–9. doi:10.1167/iovs.04-0544. PMID 15557452.
- Trudeau MC, Zagotta WN (2002). “Mechanism of calcium/calmodulin inhibition of rod cyclic nucleotide-gated channels”. Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8424–9. doi:10.1073/pnas.122015999. PMC 123083. PMID 12048242.
- Poetsch A, Molday LL, Molday RS (2002). “The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes”. J. Biol. Chem. 276 (51): 48009–16. doi:10.1074/jbc.M108941200. PMID 11641407.
- Bareil C, Hamel CP, Delague V, et al. (2001). “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. 108 (4): 328–34. doi:10.1007/s004390100496. PMID 11379879.
- Pogacić V, Dragon F, Filipowicz W (2000). “Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10”. Mol. Cell. Biol. 20 (23): 9028–40. doi:10.1128/MCB.20.23.9028-9040.2000. PMC 86556. PMID 11074001.
- Körschen HG, Beyermann M, Müller F, et al. (1999). “Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors”. Nature. 400 (6746): 761–6. doi:10.1038/23468. PMID 10466724.
- Ardell MD, Aragon I, Oliveira L, et al. (1996). “The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit”. FEBS Lett. 389 (2): 213–8. doi:10.1016/0014-5793(96)00588-1. PMID 8766832.
- Chen TY, Peng YW, Dhallan RS, et al. (1993). “A new subunit of the cyclic nucleotide-gated cation channel in retinal rods”. Nature. 362 (6422): 764–7. doi:10.1038/362764a0. PMID 7682292.
- Ardell MD, Makhija AK, Oliveira L, et al. (1995). “cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel”. Genomics. 28 (1): 32–8. doi:10.1006/geno.1995.1102. PMID 7590744.
- Chen TY, Illing M, Molday LL, et al. (1994). “Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation”. Proc. Natl. Acad. Sci. U.S.A. 91 (24): 11757–61. doi:10.1073/pnas.91.24.11757. PMC 45311. PMID 7526403.
- Fujii Y, Zhao FX, Fu SC, et al. (1992). “Stable preparation of aldose reductase isoenzymes from human placenta”. Protein Expr. Purif. 2 (5–6): 420–5. doi:10.1016/1046-5928(91)90103-P. PMID 1821816.
External links
External links
- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- CNGB1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CNGB1 genome location and CNGB1 gene details page in the UCSC Genome Browser.
- Human GAR1 genome location and GAR1 gene details page in the UCSC Genome Browser.
