CNGA1

Chr 4AR

cyclic nucleotide gated channel subunit alpha 1

Also known as: CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49

NCBI Gene: 1259 ENSG00000198515 UniProt: P29973 OMIM: 123825

This gene encodes the pore-forming subunit of the rod cyclic nucleotide-gated channel, which mediates rod photoresponses by converting changes in intracellular cGMP levels into electrical signals during phototransduction. Mutations cause retinitis pigmentosa 49, inherited in an autosomal recessive pattern. The gene is highly intolerant to loss-of-function variants, indicating strong evolutionary constraint.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa 49MIM #613756

Clinical highlights

Gene-disease validity (ClinGen)

CNGA1-related retinopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

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