The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Editor

Share

Personal info

View

Links

  • Homologues
  • NCBI Gene
  • NCBI SNP
  • iHOP resource
  • OMIM
  • SNPedia
  • UniProt
  • Ensembl
  • HGNC

Table of contents

About

Terms

 

Gene Review: 

PDE6H  -  phosphodiesterase 6H, cGMP-specific, cone,...

Homo sapiens

Synonyms: ACHM6, GMP-PDE gamma, RCD3, Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

High impact information on PDE6H

  • From these results, we concluded that this clone (HGMW-approved symbol PDE6H) encodes for the gamma subunit of human cone-specific cGMP phosphodiesterase, and it was assigned to chromosome 12p13 by fluorescence in situ hybridization [1].
  • The replacement of the PDE6 H-loop into the PDE5 catalytic domain increases the catalytic rate and the K(m) value for cGMP hydrolysis, whereas the substitution of the M-loop produces catalytic PDE domains responsive to Pgamma [2].
  • If the effect of the G to C substitution we observed in vitro also occurs in vivo, it will lead to PDE6H overexpression in the photoreceptors [3].
  • METHODS: The DNAs of the 240 probands were screened for sequence variants in the PDE6H gene (that encodes the inhibitory gamma-subunit of cone cyclic guanosine monophosphate [cGMP]-phosphodiesterase [PDE]) by single-strand conformation polymorphism electrophoresis [3].
  • By use of in vitro transcription/translation experiments, we demonstrated that this substitution could lead to an increase in PDE6H gene expression [3].

References

  1. Isolation and chromosomal localization of the human cone cGMP phosphodiesterase gamma cDNA (PDE6H). Shimizu-Matsumoto, A., Itoh, K., Inazawa, J., Nishida, K., Matsumoto, Y., Kinoshita, S., Matsubara, K., Okubo, K. Genomics (1996) [Pubmed]
  2. Analysis of PDE6 function using chimeric PDE5/6 catalytic domains. Muradov, H., Boyd, K.K., Artemyev, N.O. Vision Res. (2006) [Pubmed]
  3. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. Piri, N., Gao, Y.Q., Danciger, M., Mendoza, E., Fishman, G.A., Farber, D.B. Ophthalmology (2005) [Pubmed]
Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenesOpen Access LicencePrivacy PolicyTerms of Useapsburg
 
WikiGenes - Universities