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]
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.
Tissue Specificity:
Abundantly expressed in the thyroid. Also very weakly expressed in brain, spinal cord and placenta. In the thyroid isoform 1 predominates, and isoforms 2 and 6 are also highly expressed. In the placenta isoforms 1 and 2 are expressed equally. In the brain isoform 2 predominates.
DISEASE:
Defects in PDE8B are the cause of striatal degeneration autosomal dominant (ADSD) [MIM:609161]. 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.
Similarity:
Belongs to the cyclic nucleotide phosphodiesterase family.
PDE8 subfamily.
Contains 1 PAS (PER-ARNT-SIM) domain.
SWISS:
O95263
Gene ID:
8622
Database links:
Entrez Gene: 8622 Human
Entrez Gene: 218461 Mouse
Entrez Gene: 309962 Rat
Omim: 603390 Human
SwissProt: O95263 Human
SwissProt: O70628 Mouse
Unigene: 584830 Human
Unigene: 78106 Human
Unigene: 208889 Rat
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