KEGG   VARIANT: 10841v1
Entry
10841v1                      Variant                               
Name
FTCD deficiency
Type
Loss of function
Gene
FTCD  formimidoyltransferase cyclodeaminase [KO:K13990]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606806
Network
nt06037  Histidine metabolism
nt06038  Folate metabolism
Disease
H01262  Formiminotransferase deficiency
Reference
PMID:12815595
  Authors
Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS
  Title
The molecular basis of glutamate formiminotransferase deficiency.
  Journal
Hum Mutat 22:67-73 (2003)
DOI:10.1002/humu.10236
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