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:
Related Diseases:
References:
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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
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NCBI article
NCBI 5147
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OMIM.ORG article
Omim 602676
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13. |
Wikipedia article
Wikipedia EN (PDE6D)
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Update: Aug. 14, 2020