Disease-gene associations mined from literature

Literature associating CNGA1 and achromatopsia

CNGA1 [ENSP00000384264]

Rod 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 rod photoreceptors; Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.

Synonyms:  CNGA1,  CNGA1p,  hCNGA1,  A0A024R9X3,  D6R978 ...

Linkouts:  STRING  Pharos  UniProt