KEGG   NETWORK: N00777
Entry
N00777                      Network                                

Name
HSD17B4 deficiency in beta-oxidation
Definition
Very-long-chain-acyl-CoA(n) -- ACOX1/3 >> HSD17B4*
  Expanded
C20876 -- (51,8310) >> 3295v1
Class
nt06021 beta-Oxidation in peroxisome
Type
Variant
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H02098  D-bifunctional protein deficiency
Gene
51  ACOX1; acyl-CoA oxidase 1
8310  ACOX3; acyl-CoA oxidase 3, pristanoyl
3295  HSD17B4; hydroxysteroid 17-beta dehydrogenase 4
Variant
3295v1 (HSD17B4*)  HSD17B4 deficiency
Metabolite
C20876  Very-long-chain acyl-CoA
Reference
PMID:9482850
  Authors
van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ
  Title
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
  Journal
Proc Natl Acad Sci U S A 95:2128-33 (1998)
DOI:10.1073/pnas.95.5.2128
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