Rhodopsin-sensitive cGMP Phosphodiesterase Untereinheit delta
Das PDE6D-Gen kodiert ein Enzym mit einer Doppelfunktion in der Protorezeption und bei der Zilienbildung. Mutationen sind für autosomal rezessives Joubert-Syndrom 22 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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11. |
NCBI article
NCBI 5147
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12. |
OMIM.ORG article
Omim 602676
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Update: 14. August 2020