KEGG   VARIANT: 35v1
Entry
35v1                      Variant                                  
Name
ACADS deficiency
Type
Loss of function
Gene
ACADS  acyl-CoA dehydrogenase short chain [KO:K00248]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606885
Network
nt06020  beta-Oxidation in mitochondria
Disease
H01980  SCAD deficiency
Reference
PMID:2808706
  Authors
Naito E, Indo Y, Tanaka K
  Title
Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability.
  Journal
J Clin Invest 84:1671-4 (1989)
DOI:10.1172/JCI114346
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