The cGMP- dependent channel beta 1 , also known as CNGB1 , is a human gene that encodes an ion channel protein . [one]
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| Symbol | ; CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; GAR1; GARP; GARP2; RCNC2; RCNCb; RCNCbeta; RP45 | ||||||||||||
| External id | IUPHAR : GeneCards : | ||||||||||||
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In humans, the cGMP-dependent cationic channels of the photosensitive cells of rods help regulate the ion flow in the outer segment of these cells in response to light-induced changes in the level of intracellular cGMP . This channel consists of two subunits, α and β; the protein encoded by this gene provides beta subunits. Defects of this gene are the cause of retinitis type 45 pigmentosa . There are three variants of transcripts encoding various isoforms of this gene.
Notes
Literature
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- Ardell MD, Makhija AK, Oliveira L., et al. cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homologue of the third subunit of the bovine photoreceptor cGMP-gated channel. (eng.) // Genomics : journal. - Academic Press , 1995. - Vol. 28 , no. 1 . - P. 32-8 . - DOI : 10.1006 / geno.1995.1102 . - PMID 7590744 .
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