KEGG   NETWORK: N00809
Entry
N00809                      Network                                

Name
AKR1D1 deficiency in bile acid biosynthesis
Definition
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1*
  Expanded
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718v1
Class
nt06022 Bile acid biosynthesis
Type
Variant
Disease
H00628  Congenital bile acid synthesis defect
Gene
1581  CYP7A1; cytochrome P450 family 7 subfamily A member 1
9420  CYP7B1; cytochrome P450 family 7 subfamily B member 1
51302  CYP39A1; cytochrome P450 family 39 subfamily A member 1
80270  HSD3B7; hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
1582  CYP8B1; cytochrome P450 family 8 subfamily B member 1
6718  AKR1D1; aldo-keto reductase family 1 member D1
Variant
6718v1 (AKR1D1*)  AKR1D1 deficiency
Metabolite
C00187  Cholesterol
Reference
  Authors
Drury JE, Mindnich R, Penning TM
  Title
Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
  Journal
J Biol Chem 285:24529-37 (2010)
DOI:10.1074/jbc.M110.127779
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