Orphanet: phosphodiesterase 6H
x

Search for a gene

* (*) mandatory field

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: -
  • LOVD: PDE6H

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

Health care resources for this gene

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.