PDE8B gene

phosphodiesterase 8B

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

From NCBI Gene:

The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]

From UniProt:

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.

From NCBI Gene:

  • Pigmented nodular adrenocortical disease, primary, 3
  • Striatal degeneration, autosomal dominant

From UniProt:

Primary pigmented nodular adrenocortical disease 3 (PPNAD3): 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 truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. [MIM:614190]

Striatal degeneration, autosomal dominant 1 (ADSD1): 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. [MIM:609161]

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3

Molecular Location: base pairs 77,180,252 to 77,428,256 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q13.3, which is the long (q) arm of chromosome 5 at position 13.3
  • ADSD
  • PPNAD3