rs867220379

This variant is located in the GCH1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

GTP cyclohydrolase I deficiency; Dystonia 5; Dystonia 5;GTP cyclohydrolase I deficiency with hyperphenylalaninemia

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About GCH1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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