KEGG   VARIANT: 7054v1
Entry
7054v1                      Variant                                
Name
TH deficiency
Type
Loss of function
Gene
TH  tyrosine 3-monooxygenase isoform a [KO:K00501]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191290
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H02557  Dopa-responsive dystonia
Reference
PMID:8528210
  Authors
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K
  Title
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
  Journal
Hum Mol Genet 4:1209-12 (1995)
DOI:10.1093/hmg/4.7.1209
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