8ev9: Difference between revisions
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== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/CNGB3_HUMAN CNGB3_HUMAN] | [https://www.uniprot.org/uniprot/CNGB3_HUMAN CNGB3_HUMAN] Progressive cone dystrophy;Stargardt disease;Achromatopsia. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/CNGB3_HUMAN CNGB3_HUMAN] | [https://www.uniprot.org/uniprot/CNGB3_HUMAN CNGB3_HUMAN] Pore-forming subunit of the cone cyclic nucleotide-gated channel. Mediates cone photoresponses at bright light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyperpolarization that ultimately slows neurotransmitter release and signals the presence of light, the end point of the phototransduction cascade. Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations.<ref>PMID:10888875</ref> <ref>PMID:12815043</ref> <ref>PMID:34969976</ref> <ref>PMID:37463923</ref> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||