GCH1 Chromosome 14
GTP cyclohydrolase 1
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What This Gene Does
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
14q22.2
Ensembl
ENSG00000131979
Associated Conditions (16)
GTP cyclohydrolase I deficiency
Dystonia 5
Dystonia
dopa-responsive
with or without hyperphenylalaninemia
autosomal recessive
Intellectual disability
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Inborn genetic diseases
GCH1-related disorder
Dopa-responsive dystonia
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Abnormal central motor function
Dystonic disorder
6 conditions
Key Variants
RS104894434
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, Dystonia
Health Risk
RS104894435
Conflicting classifications of pathogenicity
Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia
Health Risk
RS1353623780
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
Health Risk
RS138578359
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
Health Risk
RS1393095176
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139350456
Conflicting classifications of pathogenicity
Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
Health Risk
RS143111433
Conflicting classifications of pathogenicity
Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
Health Risk
RS143961472
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
Health Risk
RS150158277
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GCH1-related disorder
Health Risk
RS150176097
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
Health Risk
RS1555360034
Conflicting classifications of pathogenicity
Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
Health Risk
RS1594970015
Conflicting classifications of pathogenicity
GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
Health Risk
All Variants (117)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504390380 | Health Risk | Pathogenic | — |
| RS2504539104 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2504540200 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2504541515 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS41298440 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS61762303 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS755556239 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS886039379 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Inborn genetic diseases |
| RS886041708 | Health Risk | Pathogenic | — |
| RS988395114 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1044089000 | Health Risk | Pathogenic/Likely pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1474519447 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1555358382 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1555358507 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency |
| RS1595031221 | Health Risk | Pathogenic/Likely pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS2140041733 | Health Risk | Pathogenic/Likely pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS2140063480 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 5, Dystonic disorder, Dystonia 5 |