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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



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

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

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

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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.

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

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

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

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

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

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Orphanet article

Orphanet ID 391804 external link

NCBI article

NCBI 5147 external link

OMIM.ORG article

Omim 602676 external link

Wikipedia article

Wikipedia EN (PDE6D) external link
Update: Aug. 14, 2020
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