PTS Chromosome 11
6-pyruvoyltetrahydropterin synthase
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What This Gene Does
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 (11)
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hyperphenylalaninemia
bh4-deficient
a
due to partial pts deficiency
PTS-related disorder
Inborn genetic diseases
Noonan syndrome 1
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Nonpapillary renal cell carcinoma
Key Variants
RS1030849527
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS104894279
Conflicting classifications of pathogenicity
Hyperphenylalaninemia, bh4-deficient, a
Health Risk
RS143472856
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1480995114
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS148185068
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS149320135
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1555198459
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1555198495
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1592880489
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1859903893
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
RS1859971515
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Inborn genetic diseases
Health Risk
RS2496570753
Conflicting classifications of pathogenicity
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Noonan syndrome 1, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Health Risk
All Variants (97)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1030849527 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS104894279 | Health Risk | Conflicting classifications of pathogenicity | Hyperphenylalaninemia, bh4-deficient, a |
| RS143472856 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1480995114 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS148185068 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS149320135 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198459 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198495 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1592880489 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1859903893 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1859971515 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Inborn genetic diseases |
| RS2496570753 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Noonan syndrome 1, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS372852903 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS374871539 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS762894736 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Inborn genetic diseases, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS763556416 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS775426269 | Health Risk | Conflicting classifications of pathogenicity | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS104894274 | Health Risk | Likely pathogenic | Hyperphenylalaninemia, bh4-deficient, a |
| RS1057517811 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1178886103 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1328320990 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1449216377 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, GTP cyclohydrolase I deficiency with hyperphenylalaninemia, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1474586656 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555197885 | Health Risk | Likely pathogenic | — |
| RS1555198233 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198263 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198451 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198462 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198483 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1555198494 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1859865221 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS199603175 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2135407190 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2135408292 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2135409169 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2135410460 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2496560615 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2496567570 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2496567659 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2496570703 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS2496571494 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS759363496 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS772285014 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS866922524 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS927103678 | Health Risk | Likely pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS104894275 | Health Risk | Pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, PTS-related disorder, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS104894276 | Health Risk | Pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Hyperphenylalaninemia due to tetrahydrobiopterin deficiency, GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| RS104894278 | Health Risk | Pathogenic | Hyperphenylalaninemia, bh4-deficient, a |
| RS104894280 | Health Risk | Pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |
| RS1167104933 | Health Risk | Pathogenic | 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency |