Orphanet: phosphodiesterase 6H

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PDE6H - phosphodiesterase 6H

  • Synonym(s) : retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
  • Previous symbols and names : phosphodiesterase 6H, cGMP-specific, cone, gamma
  • Type : gene with protein product
  • Chromosomal location : 12p12.3
  • OMIM: 601190
  • HGNC: 8790
  • UniProtKB: Q13956
  • Genatlas: PDE6H
  • Ensembl: ENSG00000139053
  • IUPHAR-DB: -
  • Reactome: -

Diseases list

  • Disease-causing germline mutation(s) in Achromatopsia ORPHA:49382
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

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