KEGG   NETWORK: N00760
Entry
N00760                      Network                                

Name
CYP11B1 deficiency in steroid hormone biosynthesis
Definition
Progesterone -- CYP17A1 >> CYP21A2 >> CYP11B1* // Cortisol -- HSD11B2 -> Cortisone
  Expanded
C00410 -- 1586 >> 1589 >> 1584v1 // C00735 -- 3291 -> C00762
Class
nt06019 Steroid hormone biosynthesis
Type
Variant
Disease
H00216  Congenital adrenal hyperplasia
Gene
1586  CYP17A1; cytochrome P450 family 17 subfamily A member 1
1589  CYP21A2; cytochrome P450 family 21 subfamily A member 2
1584  CYP11B1; cytochrome P450 family 11 subfamily B member 1
3291  HSD11B2; hydroxysteroid 11-beta dehydrogenase 2
Variant
1584v1 (CYP11B1*)  CYP11B1 deficiency
Metabolite
C00410  Progesterone
C00735  Cortisol
C00762  Cortisone
Reference
PMID:2022736
  Authors
White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rosler A
  Title
A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
  Journal
J Clin Invest 87:1664-7 (1991)
DOI:10.1172/JCI115182
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