DISEASES

Disease-gene associations mined from literature

Literature associating PTS and metachondromatosis

PTS [ENSP00000280362]

6-pyruvoyl tetrahydrobiopterin synthase; Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin; Belongs to the PTPS family.

Synonyms:  PTS,  E9PJM0,  E9PKY8,  E9PNN3,  Q03393 ...

Linkouts:  STRING  Pharos  UniProt  OMIM