KEGG   VARIANT: 788v1
Entry
788v1                      Variant                                 
Name
SLC25A20 mutation
Type
Loss of function
Gene
SLC25A20  mitochondrial carnitine/acylcarnitine carrier protein [KO:K15109]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613698
Network
nt06020  beta-Oxidation in mitochondria
Disease
H01983  Carnitine-acylcarnitine translocase deficiency
Reference
PMID:10384385
  Authors
al Aqeel AI, Rashed MS, Wanders RJ
  Title
Carnitine-acylcarnitine translocase deficiency is a treatable disease.
  Journal
J Inherit Metab Dis 22:271-5 (1999)
DOI:10.1023/A:1005546408659
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