Disease-gene associations mined from literature

Literature associating CNGB3 and achromatopsia 7

CNGB3 [ENSP00000316605]

Cyclic nucleotide-gated cation channel modulatory subunit; 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; Cyclic nucleotide gated channels

Synonyms:  CNGB3,  CNGB3p,  hCNGB3,  H0YAZ4,  Q9NQW8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM