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BRENDA support

Literature summary for 3.5.4.16 extracted from

  • Lopez-Laso, E.; Camino, R.; Mateos, M.E.; Perez-Navero, J.L.; Ochoa, J.J.; Lao-Villadoniga, J.I.; Ormazabal, A.; Artuch, R.
    Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency (2007), J. Neurol. Sci., 256, 90-93.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
C265T mutation results in the loss of the 177 C-terminal amino acids Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
GTP cyclohydrolase 1
-
Homo sapiens
GTPCH
-
Homo sapiens