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Literature summary for 3.1.4.53 extracted from

  • Horvath, A.; Giatzakis, C.; Tsang, K.; Greene, E.; Osorio, P.; Boikos, S.; Libe, R.; Patronas, Y.; Robinson-White, A.; Remmers, E.; Bertherat, J.; Nesterova, M.; Stratakis, C.A.
    A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex (2008), Eur. J. Hum. Genet., 16, 1245-1253.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
H305P the mutation is associated with micronodular adrenocortical disease Mus musculus
H305P the mutation is associated with micronodular adrenocortical disease Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens O95263
-
-
Mus musculus
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
adipose tissue axillae Mus musculus
-
adrenal cortex
-
Mus musculus
-
adrenal cortex
-
Homo sapiens
-
adrenal cortex of newborn mice Mus musculus
-
adrenal cortex tumor tissues from patients with isolated micronodular adrenocortical disease and no mutations in the coding PDE8B sequence or any other related genes (PRKAR1A, PDE11A) show downregulated PDE8B expression compared to normal adrenal cortex. PDE8B is a PDE gene linked to isolated micronodular adrenocortical disease. It is a candidate causative gene for other adrenocortical lesions linked to the cAMP signaling pathway and possibly for tumors in other tissues Homo sapiens
-
adrenal gland
-
Mus musculus
-
adrenal gland
-
Homo sapiens
-
kidney
-
Mus musculus
-
liver
-
Mus musculus
-
lung weak activity Mus musculus
-
skeletal muscle weak activity Mus musculus
-
testis weak activity Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3',5'-cAMP + H2O
-
Mus musculus 5'-AMP
-
?
3',5'-cAMP + H2O
-
Homo sapiens 5'-AMP
-
?

Synonyms

Synonyms Comment Organism
cAMP-specific phosphodiesterase
-
Mus musculus
cAMP-specific phosphodiesterase
-
Homo sapiens
PDE8B
-
Mus musculus
PDE8B
-
Homo sapiens