KEGG   NETWORK: N00774
Entry
N00774                      Network                                

Name
CYP11B2 deficiency in steroid hormone biosynthesis
Definition
Progesterone -- CYP21A2 >> CYP11B1 >> CYP11B2* // Aldosterone
  Expanded
C00410 -- 1589 >> 1584 >> 1585v2 // C01780
Class
nt06019 Steroid hormone biosynthesis
Type
Variant
Disease
H00258  Aldosterone synthase deficiency
Gene
1589  CYP21A2; cytochrome P450 family 21 subfamily A member 2
1584  CYP11B1; cytochrome P450 family 11 subfamily B member 1
1585  CYP11B2; cytochrome P450 family 11 subfamily B member 2
Variant
1585v2 (CYP11B2*)  CYP11B2 deficiency
Metabolite
C00410  Progesterone
C01780  Aldosterone
Reference
PMID:830445
  Authors
Cohen T, Theodor R, Rosler A
  Title
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait.
  Journal
Clin Genet 11:25-30 (1977)
DOI:10.1111/j.1399-0004.1977.tb01273.x
Reference
PMID:8439335
  Authors
Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, et al.
  Title
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients.
  Journal
Biochem Biophys Res Commun 190:864-9 (1993)
DOI:10.1006/bbrc.1993.1128
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