PDE11A4 Antibody Antigenic Blocking Peptide

The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PDE11A: Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'- GMP, respectively. Defects in PDE11A are the cause of primary pigmented nodular adrenocortical disease type 2 (PPNAD2). Primary pigmented nodular adrenocortical disease is a rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. PPNAD2 is characterized by adrenal glands with overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. PPNAD2 leads to Cushing syndrome. Belongs to the cyclic nucleotide phosphodiesterase family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 3.1.4.35; Nucleotide Metabolism - purine; Phosphodiesterase; EC 3.1.4.17

Chromosomal Location of Human Ortholog: 2q31.2

Cellular Component: cytosol; perikaryon

Molecular Function: 3',5'-cyclic-AMP phosphodiesterase activity; 3',5'-cyclic-GMP phosphodiesterase activity; 3',5'-cyclic-nucleotide phosphodiesterase activity; cAMP binding; cGMP binding; cGMP-stimulated cyclic-nucleotide phosphodiesterase activity; cyclic-nucleotide phosphodiesterase activity; metal ion binding

Biological Process: cAMP catabolic process; cGMP catabolic process; signal transduction

Disease: Pigmented Nodular Adrenocortical Disease, Primary, 2