PDE6H, Official Symbol PDE6Hprovided by HGNC Official Full Name phosphodiesterase 6Hprovided by HGNC Primary source HGNC:HGNC:8790 See related Ensembl:ENSG00000139053 MIM:601190; AllianceGenome:HGNC:8790 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RCD3; ACHM6 Summary This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all