KEGG   NETWORK: N00806
Entry
N00806                      Network                                

Name
ACOX2 deficiency in bile acid biosynthesis
Definition
Cholesterol -- (CYP7A1,CYP7B1,CYP39A1) >> HSD3B7 >> CYP8B1 >> AKR1D1 >> AKR1C4 >> CYP27A1 >> SLC27A5 >> AMACR >> ACOX2*
  Expanded
C00187 -- (1581,9420,51302) >> 80270 >> 1582 >> 6718 >> 1109 >> 1593 >> 10998 >> 23600 >> 8309v1
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
8309  ACOX2; acyl-CoA oxidase 2
Variant
8309v1 (ACOX2*)  ACOX2 deficiency
Metabolite
C00187  Cholesterol
Reference
  Authors
Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG
  Title
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
  Journal
J Hepatol 66:581-588 (2017)
DOI:10.1016/j.jhep.2016.11.005
LinkDB

DBGET integrated database retrieval system