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Article

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

Human molecular genetics - 15 Dec 2009

Ding Xi-Qin, Harry Cynthia S, Umino Yumiko, Matveev Alexander V, Fliesler Steven J, Barlow Robert B

Abstract excerpt

The cone cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. This channel is composed of two structurally related subunits, CNGA3 and CNGB3; CNGA3 is the ion-conducting subunit, whereas CNGB3 is a modulatory subunit. Mutations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting for 50% of all...

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Source

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Identifiers

PMID: 19767295
DOI: 10.1093/hmg/ddp440
PMCID: PMC2778372

Genes

CNGB3
CNGA3
ERG

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.

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Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.PMID 19767295Read ↗

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