DISEASES

Disease-gene associations mined from literature

Literature associating SPR and BH4-deficient hyperphenylalaninemia A

SPR [ENSP00000234454]

Sepiapterin reductase; Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin; Belongs to the sepiapterin reductase family.

Synonyms:  SPR,  P35270,  P35270p,  hP35270,  1.1.1.153 ...

Linkouts:  STRING  Pharos  UniProt  OMIM