NETWORK: N00320 Help
Entry
Name
Mutation-activated PRKACA to ACTH-cortisol signaling pathway
Definition
PRKACA* -> (NR5A1,NR4A1,SP1,PBX1,CREB) => (STAR,CYP11B1) -> Cortisol
Expanded
5566v1 -> (2516,3164,6667,5087,10488,1385,1386,1388,148327,468,64764,84699,90993,9586) => (6770,1584) -> C00735
Class
Type
Variant
Pathway
Disease
H02049 Bilateral macronodular adrenal hyperplasia
Gene
5566 PRKACA; protein kinase cAMP-activated catalytic subunit alpha
2516 NR5A1; nuclear receptor subfamily 5 group A member 1
3164 NR4A1; nuclear receptor subfamily 4 group A member 1
6667 SP1; Sp1 transcription factor
5087 PBX1; PBX homeobox 1
10488 CREB3; cAMP responsive element binding protein 3
1385 CREB1; cAMP responsive element binding protein 1
1386 ATF2; activating transcription factor 2
1388 ATF6B; activating transcription factor 6 beta
148327 CREB3L4; cAMP responsive element binding protein 3 like 4
468 ATF4; activating transcription factor 4
64764 CREB3L2; cAMP responsive element binding protein 3 like 2
84699 CREB3L3; cAMP responsive element binding protein 3 like 3
90993 CREB3L1; cAMP responsive element binding protein 3 like 1
9586 CREB5; cAMP responsive element binding protein 5
6770 STAR; steroidogenic acute regulatory protein
1584 CYP11B1; cytochrome P450 family 11 subfamily B member 1
Variant
5566v1 (PRKACA*) PRKACA mutation
Metabolite
Reference
Authors
Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S
Title
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
Journal
Reference
Authors
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
Title
Cushing's syndrome.
Journal
Reference
Authors
Lodish M, Stratakis CA
Title
A genetic and molecular update on adrenocortical causes of Cushing syndrome.
Journal
Reference
Authors
Duan K, Gomez Hernandez K, Mete O
Title
Clinicopathological correlates of adrenal Cushing's syndrome.
Journal
LinkDB
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