Disease-gene associations mined from literature

Literature associating CNGA3 and achromatopsia 7

CNGA3 [ENSP00000377140]

Cone photoreceptor cGMP-gated channel subunit alpha; 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 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones; Cyclic nucleotide gated channels

Synonyms:  CNGA3,  CNGA3p,  hCNGA3,  E9PF93,  Q16281 ...

Linkouts:  STRING  Pharos  UniProt