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

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:4193	GCH1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	2643	GCH1

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71424-3
ConceptMap translate: https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP71424-3

Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	GCH1 基因 Synonyms: DYT14;DYT5;DYT5a;GCH;GTP-CH-1;GTPCH1;HPABH4B;guanosine 5''-triphosphate cyclohydrolase I;GTP cyclohydrolase 1;鸟嘌呤核苷 5''-三磷酸环水解酶 I;鸟苷 5''-三磷酸环水解酶 I;GTP 环水解酶 1;GTP 环化水解酶 1;GTP 环式水解酶 1
et-EE	Estonian (Estonia)	GCH1 geen
es-ES	Spanish (Spain)	Gen GCH1
it-IT	Italian (Italy)	GCH1, gene Synonyms: Gene GCH1
tr-TR	Turkish (Turkey)	GCH1 geni
ru-RU	Russian (Russian Federation)	GCH1 ген
nl-NL	Dutch (Netherlands)	GCH1-gen Synonyms: GCH1 gen
fr-FR	French (France)	GCH1 gène
pl-PL	Polish (Poland)	GCH1 gen Synonyms: Gen GCH1
el-GR	Greek (Greece)	Γονίδιο GCH1 Synonyms: Γονίδιο GCH1

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.