Cyclic-nucleotide-gated cation channel beta 3 (CNG channel beta 3, cone photoreceptor cGMP-gated channel beta subunit, cyclic nucleotide-gated cation channel modulatory subunit, CNGB3)

Function

• activated by cGMP leads to:
  • opening of the cation channel
  • depolarization of rod photoreceptors
• generation of light-evoked electrical responses in the red-, green- & blue sensitive cones.
• heterooligomeric complex with CNGA3

Structure

• belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family
• contains 1 cyclic nucleotide-binding domain

Compartment

integral membrane protein

Expression

expressed specifically in the retina

Pathology

• defects in CNGB3 are a cause of
  • achromatopsia 3
  • Stargardt disease type 1

Laboratory

• CNGB3 gene mutation

More general terms

• cGMP-gated cation channel (photoreceptor)

Additional terms

• achromatopsia 3 (ACHM3); Pingelapese blindness

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5471
• OMIM: https://mirror.omim.org/entry/248200
• OMIM: https://mirror.omim.org/entry/262300
• OMIM: https://mirror.omim.org/entry/605080
• UniProt: http://www.uniprot.org/uniprot/Q9NQW8.html