KEGG   VARIANT: 23600v2
Entry
23600v2                      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
nt06022  Bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Reference
PMID:10655068
  Authors
Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ
  Title
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
  Journal
Nat Genet 24:188-91 (2000)
DOI:10.1038/72861
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