ALDOSTERONE BIOSYNTHETIC PATHWAY (PW:0000773)

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Description

Mineralocorticoid hormones are responsible for controlling the reabsorption of inorganic ions (Na+, Cl- and HCO3-) by the kidney. Aldosterone, the main C21 mineralocorticoid, is primarily synthesized in the cortex of the adrenal gland. Like all steroid hormones, mineralocorticoids are derived from cholesterol; their biosynthesis is tightly regulated by the hypothalamus-pituitary-gonadal axis. The chronic steroidogenic response involves the

Pathway Diagram:

Ariadne Genomics Inc. e(3) Por Fdx1 Cyp11a1 e Star cholesterol ---> pregnenolone cholesterol Cyp21a1 Hsd3b2 Hsd3b1 pregnenolone ---> progesterone progesterone progesterone ---> desoxycorticosterone desoxycorticosterone NADPH NADPH ---> e NADP+ NADPH ---> NADP+ corticosterone aldosterone Fdxr NADPH(3) NADP+(3) NADPH(3) ---> e(3) NADPH(3) ---> NADP+(3) Fdx1 ---> Cyp11a1 Cyp11b1 Fdx1 ---> Cyp11b1 Cyp11b2 Fdx1 ---> Cyp11b2 desoxycorticosterone ---> corticosterone corticosterone ---> aldosterone pregnenolone
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aldosterone biosynthetic pathway term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 GBrowse link ISS 8 61,793,976 61,805,308 RGD:4892309 RGD
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 GBrowse link ISS 7 112,977,395 112,984,080 RGD:4889549 RGD
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 GBrowse link TAS 7 113,043,365 113,049,779 RGD:4889549 RGD
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 GBrowse link ISS 20 4,125,357 4,128,518 RGD:4889549 RGD
G Fdx1 ferredoxin 1 GBrowse link ISS 8 55,291,396 55,310,507 RGD:2325883 RGD
G Fdxr ferredoxin reductase GBrowse link ISS 10 105,342,684 105,351,374 RGD:2325883 RGD
G Por P450 (cytochrome) oxidoreductase GBrowse link ISS 12 22,078,629 22,097,301 RGD:4892309 RGD
G Star steroidogenic acute regulatory protein GBrowse link ISS 16 70,642,580 70,647,203 RGD:2325883 RGD

Pathway Gene Annotations

Disease Annotations Associated with Genes in the aldosterone biosynthetic pathway
Disease TermsGene Symbols
Diabetes MellitusCyp11b2
Fetal Growth RetardationCyp11b1 , Cyp11b2 , Cyp11a1 , Star
HypogonadismCyp11a1 , Star
Diabetes Mellitus, Type 2Cyp11b2 , Cyp11a1 , Star
Metabolic Syndrome XCyp11b2
Musculoskeletal AbnormalitiesPor
Neural Tube DefectsPor
CardiomegalyCyp11b2 , Cyp11a1 , Star
Adrenal InsufficiencyCyp11a1
NephrosisCyp11a1 , Star
HypothyroidismStar
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiencyCyp11b1
Adrenal Hyperplasia, CongenitalCyp11b1 , Cyp21a1 , Star , Por , Cyp11a1
Congenital adrenal hyperplasia due to 21 hydroxylase deficiencyCyp21a1
Acidosis, Renal TubularCyp11b2
FeverStar
FibrosisCyp11b2
Lipoid congenital adrenal hyperplasiaStar
HypertensionCyp11b1 , Cyp11b2 , Cyp11a1
Polycystic Ovary SyndromeStar
18-Hydroxylase deficiencyCyp11b2
HypoaldosteronismCyp11b2
Pre-EclampsiaCyp11b2
AlbuminuriaCyp11b2
Heart DiseasesCyp11b2
HyperaldosteronismCyp11b1 , Cyp11b2
Brain InjuriesCyp11a1
Diabetes Mellitus, ExperimentalCyp11b2 , Cyp11a1 , Star
Diabetic NephropathiesCyp11b2
Heart FailureCyp11b2
HyperglycemiaCyp11a1
HypotensionPor
Myocardial InfarctionCyp11b2
MyocarditisCyp11b2
PancreatitisFdx1
Sciatic NeuropathyCyp11a1
Status EpilepticusCyp11a1
Hypertrophy, Left VentricularCyp11b1 , Cyp11b2
Adrenocortical AdenomaCyp11b1 , Cyp11b2
StrokeCyp11b2
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESISPor
Glucocorticoid-Remediable AldosteronismCyp11b1
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase DeficiencyPor
Toe Syndactyly, Telecanthus, and Anogenital and Renal MalformationsStar
Pathway Annotations Associated with Genes in the aldosterone biosynthetic pathway
Pathway TermsGene Symbols
steroid hormone biosynthetic pathwayCyp11b1 , Cyp11b2 , Cyp21a1 , Fdx1 , Por , Cyp11a1 , Fdxr , Star
C21-steroid hormone biosynthetic pathwayCyp11b2
aldosterone biosynthetic pathwayCyp11b1 , Cyp11b2 , Cyp21a1 , Fdx1 , Por , Cyp11a1 , Fdxr , Star
cortisol biosynthetic pathwayCyp11b1 , Cyp21a1 , Fdx1 , Por , Cyp11a1 , Fdxr , Star
testosterone biosynthetic pathwayFdx1 , Por , Cyp11a1 , Fdxr , Star
estradiol biosynthetic pathwayFdx1 , Por , Cyp11a1 , Fdxr , Star
Phenotype Annotations Associated with Genes in the aldosterone biosynthetic pathway
Phenotype TermsGene Symbols
abnormal adrenal gland morphologyCyp11b2
small thymusCyp11b2
increased circulating corticosterone levelCyp11b2
increased circulating aldosterone levelCyp11b2
oliguriaCyp11b2
decreased heart left ventricle weightCyp11b2

References Associated with the aldosterone biosynthetic pathway:

Ontology Path Diagram:

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