Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta

The PDE6D gene encodes an enzyme with dual function. It is involved in photoreceoption and cilia formation. Mutations cause autosomal recessive Joubert syndrome 22.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 22



Florio SK et. al. (1996) Solubilization of membrane-bound rod phosphodiesterase by the rod phosphodiesterase recombinant delta subunit.


Ershova G et. al. (1997) cDNA sequence, genomic organization and mapping of PDE6D, the human gene encoding the delta subunit of the cGMP phosphodiesterase of retinal rod cells to chromosome 2q36.


Li N et. al. (1998) Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene.


Lorenz B et. al. () Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.


Zhang H et. al. (2004) Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein.


Ismail SA et. al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo.


Chandra A et. al. (2011) The GDI-like solubilizing factor PDEδ sustains the spatial organization and signalling of Ras family proteins.


Humbert MC et. al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.


Thomas S et. al. (2014) A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.

Update: Oct. 11, 2018