PDE3A
Function
Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Has also activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling (PubMed:31420216, PubMed:34707099).
Involvement in disease
Hypertension and brachydactyly syndrome
HTNB
A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the cyclic nucleotide phosphodiesterase family. PDE3 subfamily.
Cellular localization
- Membrane
- Multi-pass membrane protein
- Cytoplasm
- Cytosol
Alternative names
Cyclic GMP-inhibited phosphodiesterase A, cGMP-inhibited cAMP phosphodiesterase, CGI-PDE A, cGI-PDE, PDE3A