GENETIC ENCYCLOPEDIA
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gene: CNGB1

id1258
symbolCNGB1
organismHomo sapiens
full namecyclic nucleotide gated channel subunit beta 1
summaryIn humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
variant-disease

NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) AND not specified

NM_001297.5(CNGB1):c.299G>A (p.Arg100His) AND Retinitis Pigmentosa, Recessive

NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) AND Retinitis Pigmentosa, Recessive

NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) AND Retinitis Pigmentosa, Recessive

NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) AND Retinitis Pigmentosa, Recessive

... 260 more


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