KEGG   VARIANT: 8309v1
Entry
8309v1                      Variant                                
Name
ACOX2 deficiency
Type
Loss of function
Gene
ACOX2  acyl-CoA oxidase 2 [KO:K10214]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601641
Network
nt06022  Bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Reference
PMID:27884763
  Authors
Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG
  Title
ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia.
  Journal
J Hepatol 66:581-588 (2017)
DOI:10.1016/j.jhep.2016.11.005
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