CNGA1 cyclic nucleotide gated channel subunit alpha 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 1259)
Symbol: CNGA1
Full name: cyclic nucleotide gated channel subunit alpha 1
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49
Summary: The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
Expression: Broad expression in liver (RPKM 2.5), small intestine (RPKM 1.6) and 17 other tissues
Orthologs: mouse
Gene size: 80705bp
Exon count: 13