PDE8B

Highest pathogenic variant AF is 0.0000027774074

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000264917

Coding exons

22

Length

219359

Individuals with no LoFs

125734

Homozygous LoFs

0

Heterozygous LoFs

14

Defined

125748

p

0.0000557

Function

FUNCTION: 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.;

Disease

DISEASE: Striatal degeneration, autosomal dominant 1 (ADSD1) [MIM:609161]: 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. {ECO:0000269|PubMed:20085714}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Primary pigmented nodular adrenocortical disease 3 (PPNAD3) [MIM:614190]: 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. {ECO:0000269|PubMed:18431404}. Note=The disease is caused by mutations affecting the gene represented in this entry.;