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Article

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.

Investigative ophthalmology & visual science - 1 Jul 2005

Patel Kirti A, Bartoli Kristen M, Fandino Richard A, Ngatchou Anita N, Woch Gustaw, Carey Jannette, Tanaka Jacqueline C

Abstract excerpt

PURPOSE: Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of cone function, is caused by mutations in the alpha subunit of the cone cyclic nucleotide-gated (CNG) channel gene CNGA3. Examination of mutations that cluster in the first transmembrane segment of the protein may provide insight into its role in CNG channel structure, function, biogenesis, and pathophysiology. METHODS: The...

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Source

Identifiers

PMID: 15980212
DOI: 10.1167/iovs.05-0179

Genes

CNGA3
CNGB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.PMID 15980212Read ↗

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Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.Semantic proximity Read ↗

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