Gene: CNGA3

Alternate names for this Gene: ACHM2|CCNC1|CCNCa|CCNCalpha|CNCG3|CNG3

Gene Summary: This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: cyclic nucleotide gated channel subunit alpha 3

Type of Gene: protein-coding

rs552069173 in CNGA3 gene and Abnormality of the eye PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

rs104893621 in CNGA3 gene and Achromatopsia PMID 21778272 2011 Photoreceptor structure and function in patients with congenital achromatopsia.

PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

PMID 16961972 2006 Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

PMID 24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

PMID 25616768 2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PMID 25943428 2015 Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

PMID 17693388 2007 Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

PMID 18445228 2008 Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

PMID 28341476 2017 Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

PMID 23972307 2013 Diagnostic fundus autofluorescence patterns in achromatopsia.

PMID 20079539 2010 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

rs104893612 in CNGA3 gene and Achromatopsia 2 PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PMID 24903488 2014 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

PMID 9662398 1998 Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

PMID 11536077 2001 CNGA3 mutations in hereditary cone photoreceptor disorders.

PMID 15743887 2005 Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PMID 26493561 2015 Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

PMID 24148654 2014 Retinal structure and function in achromatopsia: implications for gene therapy.

PMID 21778272 2011 Photoreceptor structure and function in patients with congenital achromatopsia.

PMID 26407004 2015 Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

PMID 29099798 2017 Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.

PMID 25637600 2015 Novel CNGA3 mutations in Chinese patients with achromatopsia.

PMID 17693388 2007 Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.

PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

PMID 18445228 2008 Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

PMID 25616768 2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

PMID 25168900 2014 Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.

rs117522010 in CNGA3 gene and Cone Dystrophy PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.