Gene entry
PTS
6-pyruvoyltetrahydropterin synthase
- Chromosome
- 11
- Cytoband
- 11q23.1
- Variants (rsID)
- 4
PTS is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.1). Its official name is “6-pyruvoyltetrahydropterin synthase”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs104894275Pathogenicsingle nucleotide variant6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
- rs104894276Pathogenicsingle nucleotide variant6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.