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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Genes in Pathway:

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aldosterone biosynthetic pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:4892309
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 RGD:4889549
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 JBrowse link 7 116,248,759 116,255,205 RGD:4889549
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 JBrowse link 20 4,486,213 4,489,358 RGD:4889549
G Fdx1 ferredoxin 1 JBrowse link 8 56,373,729 56,393,199 RGD:2325883
G Fdxr ferredoxin reductase JBrowse link 10 103,817,724 103,826,413 RGD:2325883
G Por cytochrome p450 oxidoreductase JBrowse link 12 23,998,411 24,017,063 RGD:4892309
G Star steroidogenic acute regulatory protein JBrowse link 16 71,036,204 71,040,847 RGD:2325883

Pathway Gene Annotations

Disease Annotations Associated with Genes in the aldosterone biosynthetic pathway
Disease TermsGene Symbols
46, XY Disorders of Sex DevelopmentCyp11a1
adrenal cortical adenomaCyp11b1 , Cyp11b2
Adrenal InsufficiencyCyp11a1
AlbuminuriaCyp11b2
amenorrheaPor
Antley-Bixler syndromePor
Antley-Bixler Syndrome with Genital Anomalies and Disordered SteroidogenesisPor
ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESISPor
AUDITORY NEUROPATHY AND OPTIC ATROPHYFdxr
Brain InjuriesCyp11a1
CardiomegalyCyp11a1 , Cyp11b2 , Star
Cell Transformation, NeoplasticPor
congenital adrenal hyperplasiaCyp11a1 , Cyp11b1 , Cyp11b2 , Cyp21a1 , Por , Star
Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase DeficiencyCyp11b2
congenital adrenal insufficiencyCyp11a1
congestive heart failureCyp11b2
Diabetic NephropathiesCyp11b2
Endometrial NeoplasmsCyp11a1 , Star
Experimental Diabetes MellitusCyp11a1 , Cyp11b2 , Star
Fetal Growth RetardationCyp11a1 , Cyp11b1 , Cyp11b2 , Star
FeverStar
FibrosisCyp11b2
genetic diseaseFdxr
gliosarcomaPor
glucocorticoid-remediable aldosteronismCyp11b2
heart diseaseCyp11b2
hyperglycemiaCyp11a1
hypertensionCyp11a1 , Cyp11b1 , Cyp11b2
Hypertrophy, Left VentricularCyp11b1 , Cyp11b2
HypoaldosteronismCyp11b2
hypogonadismCyp11a1 , Star
HypotensionPor
hypothyroidismStar
learning disabilityPor
Lipoid Congenital Adrenal HyperplasiaCyp11a1 , Star
Metabolic SyndromeCyp11b2
Musculoskeletal AbnormalitiesPor
myocardial infarctionCyp11b2
myocarditisCyp11b2
nephrosisCyp11a1 , Star
neural tube defectPor
pancreatitisFdx1
pleomorphic xanthoastrocytomaPor
polycystic ovary syndromeStar
pre-eclampsiaCyp11b2
primary hyperaldosteronismCyp11b1 , Cyp11b2
renal tubular acidosisCyp11b2
sciatic neuropathyCyp11a1
Smith-Magenis syndromeFdxr
status epilepticusCyp11a1
StrokeCyp11b2
Toe Syndactyly, Telecanthus, and Anogenital and Renal MalformationsStar
type 2 diabetes mellitusCyp11a1 , Cyp11b2 , Star
urinary bladder cancerPor
visual epilepsyCyp11a1
Pathway Annotations Associated with Genes in the aldosterone biosynthetic pathway
Phenotype Annotations Associated with Genes in the aldosterone biosynthetic pathway

References Associated with the aldosterone biosynthetic pathway:

Ontology Path Diagram:

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