KEGG   NETWORK: N00807
Entry
N00807                      Network                                

Name
AMACR deficiency in bile acid biosynthesis
Definition
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1 >> SLC27A5 >> AMACR*
  Expanded
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718 >> 1109 >> 1593 >> 10998 >> 23600v2
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
1109  AKR1C4; aldo-keto reductase family 1 member C4
1593  CYP27A1; cytochrome P450 family 27 subfamily A member 1
10998  SLC27A5; solute carrier family 27 member 5
23600  AMACR; alpha-methylacyl-CoA racemase
Variant
23600v2 (AMACR*)  AMACR deficiency
Metabolite
C00187  Cholesterol
Reference
  Authors
Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ
  Title
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
  Journal
Nat Genet 24:188-91 (2000)
DOI:10.1038/72861
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