DISEASES

Disease-gene associations mined from literature

Literature associating PDE6H and cone-rod dystrophy 6

PDE6H [ENSP00000266395]

Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones; Belongs to the rod/cone cGMP-PDE gamma subunit family.

Synonyms:  PDE6H,  PDE6Hp,  hPDE6H,  Q13956,  Q13956p ...

Linkouts:  STRING  Pharos  UniProt  OMIM