CNGA3 Antibody – Rabbit Polyclonal

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CNGA3: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of cone 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 efficacy of the channel when coexpressed with CNGB3. Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. Defects in CNGA3 are the cause of achromatopsia type 2 (ACHM2); also known as total colorblindness or rod monochromacy (RMCH2). ACHM2 is an autosomal recessive condition characterized by day blindness and photophobia. In ACHM2 patients the cones are defective and the subjects see better at night. Defects in CNGA3 may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near- absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Channel, ligand-gated; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2q11.2

Cellular Component: cytoplasm; dendrite; integral to plasma membrane; perikaryon

Molecular Function: cGMP binding; intracellular cAMP activated cation channel activity; intracellular cGMP activated cation channel activity; ligand-gated ion channel activity; protein C-terminus binding; voltage-gated potassium channel activity

Biological Process: cation transport; regulation of membrane potential; response to cAMP; response to corticosteroid stimulus; response to magnesium ion; signal transduction; transport; visual perception

Disease: Achromatopsia 2