GCH1 (Gene)

Organism:

Homo sapiens

Synonyms:DYT14, DYT5, DYT5a, ENTREZ:2643, GCH, GCH1, GTP cyclohydrolase 1, GTP-CH-1, GTPCH1, HGNC:4193, HPABH4B, MIM:600225, NM_000161, NM_001024024, NM_001024070, NM_001024071, NP_000152, NP_001019195, NP_001019241, NP_001019242, XM_017021218, XP_016876707

Omim:OMIM:600225

Id:70906b45-be08-5173-b4c8-0d45fff63968

Hgnc:HGNC:4193

Entrez:2643

Ensembl:ENSG00000131979

Description:GTP cyclohydrolase 1

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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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GCH1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with GCH1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using GCH1.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for GCH1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with GCH1.

Results found

Linked to

	Label	Description
	GSE135350 2 V 4 DEXAMETHASONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 pirfenidone HL 2 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE102757 1 V 0 PANOBINOSTAT MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE125211 0 V 1 NICOTINAMIDE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE239844 6 V 10 CRIZOTINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE226285 3 V 0 GLUTATHIONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE135350 3 V 5 DEXAMETHASONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE148200 0 V 2 GEMCITABINE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE255432 7 V 3 IMEGLIMIN MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS

GSE135350 2 V 4 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 pirfenidone HL 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE102757 1 V 0 PANOBINOSTAT MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE125211 0 V 1 NICOTINAMIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE239844 6 V 10 CRIZOTINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE226285 3 V 0 GLUTATHIONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE135350 3 V 5 DEXAMETHASONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE148200 0 V 2 GEMCITABINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE255432 7 V 3 IMEGLIMIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.