PDE4A
Homo sapiens
Gene Name: phosphodiesterase 4A
Aliases: DPDE2, PDE4, PDE46
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Functional-Rare single gene variant
Aliases: DPDE2, PDE4, PDE46
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A study found significant changes in PDE4A expression in the superior frontal cortex and cerebellum of subjects with autism (Braun et al., 2007).
Molecular Function
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Expression of phosphodiesterase 4 is altered in the brains of subjects with autism.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
