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Genes in the PDE gene family provide instructions for making enzymes called phosphodiesterases. These enzymes regulate the activity of molecules called cyclic nucleotides by breaking them down when they are no longer needed. Cyclic nucleotides are involved in cell signaling, relaying sensory and chemical information to cells. For example, light entering the eye stimulates phosphodiesterases to break down cyclic nucleotides. The reduction of these molecules triggers the transmission of visual information to the brain.
There are at least 21 genes in the PDE gene family, and multiple versions (isoforms) of a phosphodiesterase enzyme can be produced from each gene. It is likely that these isoforms allow the enzymes to respond to a variety of cyclic nucleotide types in many different tissues.
Mutations in PDE genes can interfere with cell signaling in many tissues. PDE gene mutations can cause disorders affecting the brain, heart, muscles, endocrine (hormone) system, or eyes.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the PDE gene family: PDE6B, PDE6C, and PDE6H.
Genetics Home Reference includes these conditions related to genes in the PDE gene family:
You may find the following resources about the PDE gene family helpful.
cell ; enzyme ; gene ; hormone ; isoforms ; nucleotide
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the PDE gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.