PDE5A

Chr 4

phosphodiesterase 5A

Also known as: CGB-PDE, CN5A, PDE5

NCBI Gene: 8654 ENSG00000138735 UniProt: O76074 OMIM: 603310

The protein specifically hydrolyzes cGMP to 5'-GMP and regulates nitric oxide-generated cGMP, which is important for smooth muscle relaxation in the cardiovascular system. Mutations cause autosomal dominant arterial calcification due to deficiency of CD73 (ACDC), a vascular disorder characterized by calcification of arteries. The gene is highly constrained against loss-of-function variants (pLI ~0, LOEUF 0.51), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)