CNGB3 Antibody – Rabbit Polyclonal

Function: 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

By similarity. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Ref.3

Subunit structure: Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. Ref.3 Ref.4

Subcellular location: Membrane; Multi-pass membrane protein.

Tissue specificity: Expressed specifically in the retina. Ref.1

Involvement in disease: Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3 Ref.5 Ref.6 Ref.7 Ref.8

Sequence similarities: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGB3 subfamily. [View classification]Contains 1 cyclic nucleotide-binding domain.

Sequence caution: The sequence AAF80179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.