GCH1 Chromosome 14

GTP cyclohydrolase 1
117 variants 117 Health Risk

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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
RS104894434 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, Dystonia
RS104894435 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia
RS1353623780 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS138578359 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1393095176 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139350456 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS143111433 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS143961472 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS150158277 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GCH1-related disorder
RS150176097 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1555360034 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS1594970015 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1594971274 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS199836777 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS200891969 Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia, Dystonia 5, GTP cyclohydrolase I deficiency
RS2039600745 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2140038798 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2140038918 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency with hyperphenylalaninemia, GTP cyclohydrolase I deficiency with hyperphenylalaninemia
RS2140041841 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2140127010 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2140127042 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2504539350 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS369661042 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, Intellectual disability
RS374007793 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS41298432 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GCH1-related disorder
RS41298438 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS41298442 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dopa-responsive dystonia
RS542811477 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS56127440 Health Risk Conflicting classifications of pathogenicity Hyperphenylalaninemia due to tetrahydrobiopterin deficiency, GTP cyclohydrolase I deficiency, Dystonia 5
RS753570450 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GCH1-related disorder
RS763294577 Health Risk Conflicting classifications of pathogenicity 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS764569623 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS765670568 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS770547722 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS775733967 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS776450369 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1555362843 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1555362905 Health Risk Likely pathogenic —
RS1566658823 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency
RS1566660298 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS1566687244 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS1594989087 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS1595031209 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS2039635021 Health Risk Likely pathogenic —
RS2140038831 Health Risk Likely pathogenic —
RS2140038846 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS2140038951 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency, Dystonia 5
RS2140041744 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, Dystonia 5, GTP cyclohydrolase I deficiency
RS2140041858 Health Risk Likely pathogenic —
RS2140127157 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
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