KEGG   VARIANT: 8622v1
Entry
8622v1                      Variant                                
Name
PDE8B mutation
Gene
PDE8B  high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform 1 [KO:K18437]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation H305P
ClinVar: 6390
dbSNP: rs121918360
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
Disease
H00260  Pigmented micronodular adrenocortical disease
H01431  Cushing syndrome
H02049  Bilateral macronodular adrenal hyperplasia
Reference
PMID:29233839
  Authors
Bonnet-Serrano F, Bertherat J
  Title
Genetics of tumors of the adrenal cortex.
  Journal
Endocr Relat Cancer 25:R131-R152 (2018)
DOI:10.1530/ERC-17-0361
Reference
PMID:18272904
  Authors
Horvath A, Mericq V, Stratakis CA
  Title
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.
  Journal
N Engl J Med 358:750-2 (2008)
DOI:10.1056/NEJMc0706182
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