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Description for Protein PDE6H

phosphodiesterase 6H, cGMP-specific, cone, gamma
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K13760
KEGG - Pathway(s):
hsa00230
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Retinal cone rhodopsin sensitive cGMP 3`,5`-cyclic phosphodiesterase gamma; GMP-PDE gamma
Approved Symbol:
PDE6H
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Sildenafil(db);
  • Vardenafil(db)

    Associated Genetic Diseases:

  • Retinal cone dystrophy 3A(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03116 Entrez Gene ID: 5149 OMIM ID: 601190 Swissprot Accession: Q13956;