DISEASES

Disease-gene associations mined from literature

Literature associating CNGA1 and enhanced S-cone syndrome

CNGA1 [ENSP00000384264]

cGMP-gated cation channel alpha-1; Subunit of the rod cyclic GMP-gated cation channel, which is involved in the final stage of the phototransduction pathway. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/CNGB1 channels and, therefore, hyperpolarization of the membrane potential.

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

Linkouts:  STRING  Pharos  UniProt