| Symbol
| PDE8B
| contributors: mct - updated : 21-11-2018
|
| HGNC name
| phosphodiesterase 8B
|
| HGNC id
| 8794
|
| corresponding disease(s)
|
SNID2
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
|
in bilateral adrenocortical hyperplasia (BAH)  | |
| Susceptibility
|
to variation of thyroid function and TSH levels to subclinical hypothyroidism (SCH) in pregnant women to recurrent miscarriage |
| Variant & Polymorphism
SNP
, other
| associated with serum TSH levels and thyroid function |
|
genetic variation of the PDE8B gene may be involved in the etiology of SCH in pregnant women |
|
rs4704397 in the PDE8B gene has been shown to be associated with variations in serum Thyroid Stimulating Hormone (TSH) and thyroxine (T4) levels |
|
association between homozygous A/A as well as homozygous G/G carriers of SNP rs 4704397 in PDE8B and recurrent miscarriage |
| 
|
Candidate gene
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| mental retardation | | | |
| selective antagonism of PDE8B may be an attractive target for enhancement of cognitive and motor functions | | allergy | | | |
| | | |
|
| Pde8b knockout mice have elevated urinary corticosterone as a result of adrenal hypersensitivity toward adrenocorticotropin |