KEGG   NETWORK: N00802
Entry
N00802                      Network                                

Name
HSD17B4 deficiency in beta-oxidation
Definition
Trihydroxycholestanoyl-CoA -- AMACR >> ACOX2 >> HSD17B4*
  Expanded
C15613 -- 23600 >> 8309 >> 3295v1
Class
nt06021 beta-Oxidation in peroxisome
Type
Variant
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H02098  D-bifunctional protein deficiency
Gene
23600  AMACR; alpha-methylacyl-CoA racemase
8309  ACOX2; acyl-CoA oxidase 2
3295  HSD17B4; hydroxysteroid 17-beta dehydrogenase 4
Variant
3295v1 (HSD17B4*)  HSD17B4 deficiency
Metabolite
C15613  (25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
LinkDB

DBGET integrated database retrieval system