PDE3A gene

phosphodiesterase 3A

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

From UniProt:

Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes.

From NCBI Gene:

  • Brachydactyly with hypertension

From UniProt:

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. [MIM:112410]

Cytogenetic Location: 12p12.2, which is the short (p) arm of chromosome 12 at position 12.2

Molecular Location: base pairs 20,369,245 to 20,684,107 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p12.2, which is the short (p) arm of chromosome 12 at position 12.2
  • CGI-PDE
  • CGI-PDE-A
  • CGI-PDE A
  • HTNB