KEGG   VARIANT: 55526v1
Entry
55526v1                      Variant                               
Name
DHTKD1 deficiency
Type
Loss of function
Gene
DHTKD1  dehydrogenase E1 and transketolase domain containing 1 [KO:K15791]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614984
Network
nt06036  Lysine degradation
Disease
H02644  Alpha-aminoadipic and alpha-ketoadipic aciduria
Reference
PMID:23141293
  Authors
Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kolker S
  Title
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
  Journal
Am J Hum Genet 91:1082-7 (2012)
DOI:10.1016/j.ajhg.2012.10.006
LinkDB

DBGET integrated database retrieval system