KEGG   NETWORK: N00761
Entry
N00761                      Network                                

Name
CYP21A2 deficiency in steroid hormone biosynthesis
Definition
Progesterone -- CYP17A1 >> CYP21A2* // CYP11B1/2 -> Cortisol -- HSD11B2 -> Cortisone
  Expanded
C00410 -- 1586 >> 1589v1 // (1584,1585) -> 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
1585  CYP11B2; cytochrome P450 family 11 subfamily B member 2
3291  HSD11B2; hydroxysteroid 11-beta dehydrogenase 2
Variant
1589v1 (CYP21A2*)  CYP21A2 deficiency
Metabolite
C00410  Progesterone
C00735  Cortisol
C00762  Cortisone
Reference
  Authors
New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T
  Title
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
  Journal
Proc Natl Acad Sci U S A 110:2611-6 (2013)
DOI:10.1073/pnas.1300057110
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