DISEASES

Disease-gene associations mined from literature

Literature associating PDE6C and achromatopsia 7

PDE6C [ENSP00000360502]

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.

Synonyms:  PDE6C,  PDE6Cp,  hPDE6C,  P51160,  P51160p ...

Linkouts:  STRING  Pharos  UniProt  OMIM