基因名:
PDE6D
产品别名:
JBTS22; PDED; PDE6D; phosphodiesterase 6D; phosphodiesterase 6D; retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; GMP-PDE delta; phosphodiesterase 6D, cGMP-specific, rod, delta; protein p17; 磷酸二酯酶6δ;
背景信息:
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]