PDE8B: Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland. Defects in PDE8B are the cause of striatal degeneration autosomal dominant (ADSD). It is a movement disorder affecting the striatal part of the basal ganglia and characterized by bradykinesia, dysarthria and muscle rigidity. These symptoms resemble idiopathic Parkinson disease, but tremor is not present. Defects in PDE8B are the cause of primary pigmented nodular adrenocortical disease type 3 (PPNAD3). PPNAD3 is a rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show 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. Clinical manifestations of Cushing syndrome include facial and trunkal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. Belongs to the cyclic nucleotide phosphodiesterase family. PDE8 subfamily. 6 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.1.4.53; Nucleotide Metabolism - purine; Phosphodiesterase
Chromosomal Location of Human Ortholog: 5q13.3
Cellular Component: cytosol
Molecular Function: 3',5'-cyclic-AMP phosphodiesterase activity; signal transducer activity; metal ion binding; 3',5'-cyclic-nucleotide phosphodiesterase activity
Biological Process: behavioral fear response; cyclic nucleotide metabolic process; operant conditioning; cAMP catabolic process; two-component signal transduction system (phosphorelay); visual learning; neuromuscular process controlling balance; negative regulation of insulin secretion
Disease: Striatal Degeneration, Autosomal Dominant; Pigmented Nodular Adrenocortical Disease, Primary, 3
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