Gene: CNGA1

Alternate names for this Gene: CNCG|CNCG1|CNG-1|CNG1|RCNC1|RCNCa|RCNCalpha|RP49

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: cyclic nucleotide gated channel subunit alpha 1

Type of Gene: protein-coding

Gene: NIPAL1

Alternate names for this Gene: NPAL1|SLC57A3

Gene Summary:

Gene is located in Chromosome: 4

Location in Chromosome : 4p12

Description of this Gene: NIPA like domain containing 1

Type of Gene: protein-coding

Gene: LOC101927157

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and RETINITIS PIGMENTOSA 49 PMID 15570217 2004 Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and Retinitis Pigmentosa PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 28981474 2017 The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.