Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

Genetests:

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
PDE6D

References:

1.

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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2.

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

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3.

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

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4.

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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5.

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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6.

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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7.

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

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8.

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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9.

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

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10.

Orphanet article

Orphanet ID 391804 external link
11.

NCBI article

NCBI 5147 external link
12.

OMIM.ORG article

Omim 602676 external link
13.

Wikipedia article

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