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Entry
N00762                      Network                                

Name
CYP17A1 deficiency in steroid hormone biosynthesis
Definition
Progesterone -- CYP17A1* // CYP21A2 >> CYP11B1/2 -> Cortisol -- HSD11B2 -> Cortisone
  Expanded
C00410 -- 1586v1 // 1589 >> (1584,1585) -> C00735 -- 3291 -> C00762
Class
nt06019 Steroid hormone biosynthesis
Type
Variant
Pathway
hsa00140 Steroid hormone biosynthesis   
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
1586v1  CYP17A1 deficiency
Metabolite
C00410  Progesterone
C00735  Cortisol
C00762  Cortisone
Reference
PMID:9326943
  Authors
Geller DH, Auchus RJ, Mendonca BB, Miller WL
  Title
The genetic and functional basis of isolated 17,20-lyase deficiency.
  Journal
Nat Genet 17:201-5 (1997)
DOI:10.1038/ng1097-201
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