KEGG   VARIANT: 133686v1
Entry
133686v1                      Variant                              
Name
NADK2 deficiency
Gene
NADK2  NAD kinase 2, mitochondrial [KO:K00858]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615787
Network
nt06036  Lysine degradation
Disease
H01929  2,4-Dienoyl-CoA reductase deficiency
Reference
PMID:24847004
  Authors
Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ
  Title
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
  Journal
Hum Mol Genet 23:5009-16 (2014)
DOI:10.1093/hmg/ddu218
LinkDB

DBGET integrated database retrieval system