Tyrosinemia 3 (TYRSN3) [MIM:276710]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Hawkinsinuria (HAWK) [MIM:140350]: An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine. Note=The disease is caused by mutations affecting the gene represented in this entry.
Schematic diagram of Pfam domains in target sequence
plus wiring diagram of PDB structure