Sepiapterin reductase
Function
Catalyzes the final one or two reductions in tetra-hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
Involvement in disease
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency
DRDSPRD
A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
In vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters.
Sequence Similarities
Belongs to the sepiapterin reductase family.
Cellular localization
- Cytoplasm
Alternative names
Sepiapterin reductase, SPR