Recombinant Human Cyclic nucleotide-gated cation channel alpha-3 (CNGA3), Truncated

Uniprot Id

Q16281

Target Species

Human

Target Name

CNGA3

Target Full Name

Cyclic nucleotide-gated channel alpha-3

Target Function

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.

Target Involvement

Achromatopsia 2 (ACHM2)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

Cyclic nucleotide-gated cation channel (TC 1.A.1.5) family, CNGA3 subfamily

Target Tissue Specificity

Prominently expressed in retina.

Target Synonyms

CNGA3; CNCG3; Cyclic nucleotide-gated cation channel alpha-3; Cone photoreceptor cGMP-gated channel subunit alpha; Cyclic nucleotide-gated channel alpha-3; CNG channel alpha-3; CNG-3; CNG3

Target Background

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.