DISEASES

Disease-gene associations mined from literature

Literature associating PDE6D and cone-rod dystrophy 6

PDE6D [ENSP00000287600]

Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta; Promotes the release of prenylated target proteins from cellular membranes. Modulates the activity of prenylated or palmitoylated Ras family members by regulating their subcellular location. Required for normal ciliary targeting of farnesylated target proteins, such as INPP5E. Modulates the subcellular location of target proteins by acting as a GTP specific dissociation inhibitor (GDI) (By similarity). Increases the affinity of ARL3 for GTP by several orders of magnitude. Stabilizes ARL3-GTP by decreasing the nucleotide dissociation rate (By similarity); Belongs to the PDE6D/unc-119 family.

Synonyms:  PDE6D,  PDE6Dp,  hPDE6D,  B8ZZK5,  C9IZ52 ...

Linkouts:  STRING  Pharos  UniProt  OMIM