SPR : sepiapterin reductase
Description
The SPR (sepiapterin reductase) is a protein-coding gene located on chromosome 2.
The SPR gene provides instructions for making the sepiapterin reductase enzyme, which plays a crucial role in the final step of tetrahydrobiopterin (BH4) production. BH4 is essential for processing amino acids and producing neurotransmitters like dopamine and serotonin. Dopamine helps with smooth movements, while serotonin regulates mood, sleep, and appetite.
The SPR enzyme catalyzes the final reduction step(s) in the biosynthesis of tetrahydrobiopterin (BH4), converting 6-pyruvoyl-tetrahydropterin to 5,6,7,8-tetrahydrobiopterin.
SPR is also known as SDR38C1.
Associated Diseases
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
- Sepiapterin reductase deficiency
- Dopa-responsive dystonia
