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CNGB3 Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Defects in CNGB3 are the cause of Stargardt disease type 1 (STGD1). STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive. Defects in CNGB3 are the cause of achromatopsia type 3 (ACHM3); also known as Pingelapese blindness. ACHM3 is a congenital complete achromatopsia and is distinct from total colorblindness mainly because of the consistent concurrence of severe myopia. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Channel, cation; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8q21.3
Cellular Component: integral to plasma membrane
Molecular Function: cGMP binding; intracellular cGMP activated cation channel activity; voltage-gated potassium channel activity
Biological Process: cation transport; regulation of membrane potential
Disease: Achromatopsia 3; Stargardt Disease 1
Reference #:  Q9NQW8 (UniProtKB)
Alt. Names/Synonyms: CNG channel beta-3; CNGB3; cone photoreceptor cGMP-gated cation channel beta-subunit; Cone photoreceptor cGMP-gated channel subunit beta; cyclic nucleotide gated channel beta 3; Cyclic nucleotide-gated cation channel beta-3; Cyclic nucleotide-gated cation channel modulatory subunit; Cyclic nucleotide-gated channel beta-3
Gene Symbols: CNGB3
Molecular weight: 92,167 Da
Basal Isoelectric point: 8.06  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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