PDE8A phosphodiesterase 8A
Gene ID: 5151, updated on 11-Apr-2024Gene type: protein coding
Also known as: HsT19550
- See all available tests in GTR for this gene
- Go to complete Gene record for PDE8A
- Go to Variation Viewer for PDE8A variants
Summary
The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 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 found for this gene.[provided by RefSeq, Jul 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.3
- Sequence:
- Chromosome: 15; NC_000015.10 (84980467..85139142)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDE8A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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