PDE6D, Official Symbol PDE6Dprovided by HGNC Official Full Name phosphodiesterase 6Dprovided by HGNC Primary source HGNC:HGNC:8788 See related Ensembl:ENSG00000156973 MIM:602676; AllianceGenome:HGNC:8788 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 PDED; JBTS22 Summary This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 8.3) and 24 other tissues See more Orthologs mouse all