PTS 6-pyruvoyltetrahydropterin synthase
Gene ID: 5805, updated on 7-Apr-2024Gene type: protein coding
Also known as: PTPS
- See all available tests in GTR for this gene
- Go to complete Gene record for PTS
- Go to Variation Viewer for PTS variants
Summary
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | See labs |
Genomic context
- Location:
- 11q23.1
- Sequence:
- Chromosome: 11; NC_000011.10 (112226428..112233973)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTS variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BIOMDBdb : Database of Mutations Causing BH4 Deficiencies and other PND
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PTS database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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