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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

PDE6C  -  phosphodiesterase 6C, cGMP-specific, cone,...

Homo sapiens

Synonyms: ACHM5, COD4, Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha', PDEA2, cGMP phosphodiesterase 6C
 
 
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Disease relevance of PDE6C

  • CONCLUSIONS: The results show that PDE6C was not the site of the amutations responsible for the types of inherited retinal degenerations analyzed in the large population of patients 'in the present study [1].
 

High impact information on PDE6C

  • METHODS: The 22 exons of the PDE6C gene were screened for mutations either by denaturing gradient gel electrophoresis and single-strand conformation polymorphism electrophoresis (SSCP) or by SSCP alone; variants were sequenced directly [1].
  • The genomic organization and nucleotide structure of the human cone photoreceptor cGMP phosphodiesterase alpha'-subunit (alpha'-PDE) gene (PDEA2) as well as its chromosomal localization have been determined [2].
  • Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24 [2].

References

  1. Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. Gao, Y.Q., Danciger, M., Longmuir, R., Piriev, N.I., Zhao, D.Y., Heckenlively, J.R., Fishman, G.A., Weleber, R.G., Jacobson, S.G., Stone, E.M., Farber, D.B. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  2. Gene structure and amino acid sequence of the human cone photoreceptor cGMP-phosphodiesterase alpha' subunit (PDEA2) and its chromosomal localization to 10q24. Piriev, N.I., Viczian, A.S., Ye, J., Kerner, B., Korenberg, J.R., Farber, D.B. Genomics (1995) [Pubmed]
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