KEGG   VARIANT: 23600v1
Entry
23600v1                      Variant                               
Name
AMACR deficiency
Type
Loss of function
Gene
AMACR  alpha-methylacyl-CoA racemase [KO:K01796]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604489
Network
nt06021  beta-Oxidation in peroxisome
Disease
H02099  Alpha-methylacyl-CoA racemase deficiency
Reference
PMID:9584266
  Authors
Sequeira JS, Vellodi A, Vanier MT, Clayton PT
  Title
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
  Journal
J Inherit Metab Dis 21:149-54 (1998)
DOI:10.1023/A:1005395709826
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