LP71424-3
GCH1 gene
Active
Description
The GCH1 gene (GTP cyclohydrolase 1) [HGNC Gene ID:4193] is located on chromosome 14q22.1-q22.2. 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] [NCBI Gene ID:2643] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- GCH1 gene
- Part Display Name
- GCH1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- GCH1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen GCH1 |
| it-IT | Italian (Italy) | GCH1, gene Synonyms: Gene GCH1 |
| et-EE | Estonian (Estonia) | GCH1 geen |
| zh-CN | Chinese (China) | GCH1 基因 Synonyms: DYT14; |
| tr-TR | Turkish (Turkey) | GCH1 geni |
| ru-RU | Russian (Russian Federation) | GCH1 ген |
| nl-NL | Dutch (Netherlands) | GCH1-gen Synonyms: GCH1 gen |
| el-GR | Greek (Greece) | Γονίδιο GCH1 Synonyms: Γονίδιο GCH1 |
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