Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5805
MIM: 612719
HGNC: 9689
Ensembl: ENSG00000150787
Variants:
dbSNP: 5805
ClinVar: 5805
TCGA: ENSG00000150787
COSMIC: PTS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33822819 | 2021 | BH4-deficient hyperphenylalaninemia in Russia. | 11 |
| 33903016 | 2021 | Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies. | 19 |
| 33822819 | 2021 | BH4-deficient hyperphenylalaninemia in Russia. | 11 |
| 33903016 | 2021 | Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies. | 19 |
| 32651154 | 2020 | Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. | 7 |
| 33234470 | 2020 | Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. | 5 |
| 32651154 | 2020 | Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients. | 7 |
| 33234470 | 2020 | Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. | 5 |
| 22237589 | 2012 | Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. | 17 |
| 22237589 | 2012 | Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. | 17 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19350512 | 2009 | [Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]. | 2 |
| 19491146 | 2009 | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. | 43 |
| 19674121 | 2009 | Examination of tetrahydrobiopterin pathway genes in autism. | 7 |
Citation
Dessen P
PTS (6-pyruvoyltetrahydropterin synthase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72397/pts-(6-pyruvoyltetrahydropterin-synthase)
