retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma; GMP-PDE gamma (PDE6H)

Function

• role in processes of transmission & amplification of the visual signal
• cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods & cones
• component of a heterotetramer composed of two catalytic chains (alpha & beta), & two inhibitory chains (PDE6H)

guanosine 3',5'-cyclic phosphate + H2O = guanosine 5'-phosphate

Structure

• the C-terminal region is important in conferring inhibition (putative)
• belongs to the rod/cone cGMP-PDE gamma subunit family

Pathology

• defects in PDE6H are the cause of retinal cone dystrophy type 3A

More general terms

• phosphodiesterase 6

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5149
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5149
• OMIM: https://mirror.omim.org/entry/601190
• OMIM: https://mirror.omim.org/entry/610024
• UniProt: http://www.uniprot.org/uniprot/Q13956.html