Gene: CNGB1
Alternate names for this Gene: CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|GARP2|RCNC2|RCNCb|RCNCbeta|RP45
Gene Summary: In 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.
Gene is located in Chromosome: 16
Location in Chromosome : 16q21
Description of this Gene: cyclic nucleotide gated channel subunit beta 1
Type of Gene: protein-coding
rs121918532 in
CNGB1 gene and
RETINITIS PIGMENTOSA 45
PMID 11379879 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.
rs189234741 in
CNGB1 gene and
Retinitis Pigmentosa
PMID 25999674 2015 The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
PMID 21987686 2011 Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
PMID 25943428 2015 Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
PMID 28056120 2017 Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
PMID 21147909 2011 Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.