KEGG   VARIANT: 1376v1
Entry
1376v1                      Variant                                
Name
CPT2 deficiency
Gene
CPT2  carnitine palmitoyltransferase 2 [KO:K08766]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600650
Network
nt06020  beta-Oxidation in mitochondria
Disease
H01982  Carnitine palmitoyltransferase II deficiency
Reference
PMID:12410208
  Authors
Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ
  Title
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
  Journal
J Pediatr 141:734-6 (2002)
DOI:10.1067/mpd.2002.128545
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