Cyclic nucleotide-gated channel alpha 3

Cyclic nucleotide gated channel alpha 3
Available structures
PDB Ortholog search: RCSB
Identifiers
CNGA3 Gene
RNA expression pattern

Cyclic nucleotide-gated cation channel alpha-3 is a protein that in humans is encoded by the CNGA3 gene.[1][2][3][4]

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family, which is required for normal vision and olfactory signal transduction. Two alternatively-spliced transcripts encoding different isoforms have been described.[4]

Clinical relevance

Variants in this gene have been shown to cause achromatopsia[5] and color blindness.

See also

References

Further reading

External links

  • GeneReviews/NIH/NCBI/UW entry on Achromatopsia
  • OMIM entries on Achromatopsia
  • Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.