KEGG   NETWORK: N00780
Entry
N00780                      Network                                

Name
SCP2 deficiency in beta-oxidation
Definition
Trihydroxycholestanoyl-CoA -- AMACR >> ACOX2 >> HSD17B4 >> SCP2*
  Expanded
C15613 -- 23600 >> 8309 >> 3295 >> 6342v1
Class
nt06021 beta-Oxidation in peroxisome
Type
Variant
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H00874  Leukoencephalopathy with dystonia and motor neuropathy
Gene
23600  AMACR; alpha-methylacyl-CoA racemase
8309  ACOX2; acyl-CoA oxidase 2
3295  HSD17B4; hydroxysteroid 17-beta dehydrogenase 4
6342  SCP2; sterol carrier protein 2
Variant
6342v1 (SCP2*)  SCP2 deficiency
Metabolite
C15613  (25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
Reference
  Authors
Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M
  Title
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
  Journal
Am J Hum Genet 78:1046-52 (2006)
DOI:10.1086/503921
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