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 |
|---|---|---|---|
| RS2504336964 | Health Risk | Likely pathogenic | — |
| RS2504343509 | Health Risk | Likely pathogenic | — |
| RS2504539343 | Health Risk | Likely pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2504539432 | Health Risk | Likely pathogenic | GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| RS886039378 | Health Risk | Likely pathogenic | — |
| RS104894433 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894437 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894438 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894439 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894440 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894441 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS104894443 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| RS104894444 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS104894445 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency with hyperphenylalaninemia |
| RS1296731359 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS137852633 | Health Risk | Pathogenic | Dystonia, dopa-responsive, with or without hyperphenylalaninemia |
| RS1418922853 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, GCH1-related disorder |
| RS1482120639 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS1555358599 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency |
| RS1555358604 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1555360050 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency |
| RS1555362835 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1555362845 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1555362907 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1566687321 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS1566687487 | Health Risk | Pathogenic | Dystonic disorder, Dystonic disorder |
| RS1594982939 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1595031524 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1595031674 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS1595031768 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency |
| RS201255606 | Health Risk | Pathogenic | — |
| RS2039654207 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2039866628 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2039866854 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS2040580445 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2140038749 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS2140041673 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS2140073988 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2140073990 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2140074097 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2140074192 | Health Risk | Pathogenic | Dystonia, dopa-responsive, with or without hyperphenylalaninemia |
| RS2140074226 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS2140127251 | Health Risk | Pathogenic | — |
| RS2140127278 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2140127425 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS2140127551 | Health Risk | Pathogenic | GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency |
| RS2140127822 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |
| RS2504336140 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2504342839 | Health Risk | Pathogenic | Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5 |
| RS2504343638 | Health Risk | Pathogenic | Dystonia 5, Dystonia 5 |