gene

GCH1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GCH1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

211Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

Summary

GCH1 encodes GTP cyclohydrolase I, the rate-limiting enzyme in tetrahydrobiopterin biosynthesis with critical roles in dopamine production and neurodegenerative disease

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🧬 Gene Info

Gene Symbol	GCH1
Full Name	GTP Cyclohydrolase 1
Chromosome	14q22.2
Protein Type	Enzyme
Function	This enzymatic reaction represents a critical control point in the BH4 biosynthetic pathway [@thony1998].
Primary Expression	multiple tissues:
Molecular Weight	30 kDa
Amino Acids	273 aa
Exons	6
Pathways	NF-κB
UniProt ID	[P30793](https://www.uniprot.org/uniprot/P30793)
Ensembl ID	ENSG00000131979
GeneCards	GCH1
Human Protein Atlas	GCH1
Associated Diseases	ALS, Alzheimer, Ms, Parkinson, Parkinson's disease
Interactions	JUN, ATF4, FSP1, SCD1, GPX4, NRF2
KG Connections	211 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    GCH1["GCH1"] -->|"associated"| Ms["Ms"]
    GCH1["GCH1"] -->|"activates"| Parkinson["Parkinson"]
    GCH1["GCH1"] -->|"activates"| Als["Als"]
    GCH1["GCH1"] -->|"protects against"| Als_1["Als"]
    GCH1["GCH1"] -->|"protects against"| Parkinson_2["Parkinson"]
    GCH1["GCH1"] -->|"expressed in"| Als_3["Als"]
    DRD2["DRD2"] -->|"associated"| GCH1["GCH1"]
    CYP3A4["CYP3A4"] -->|"associated"| GCH1["GCH1"]
    SNCA["SNCA"] -->|"associated"| GCH1["GCH1"]
    SLC6A2["SLC6A2"] -->|"associated"| GCH1["GCH1"]
    style GCH1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0

Outgoing (131)

Target	Relation	Type	Str
Als	activates	disease	0.75
Ms	associated_with	disease	0.65
Parkinson	activates	disease	0.65
Als	protects_against	disease	0.65
Parkinson	protects_against	disease	0.65
Als	expressed_in	disease	0.65
ALS	activates	disease	0.65
Tumor	activates	disease	0.65
Cancer	activates	disease	0.65
Chronic Kidney Disease	therapeutic_target	disease	0.65
Fibrosis	therapeutic_target	disease	0.65
Ms	activates	disease	0.65
Alzheimer	associated_with	disease	0.65
Als	associated_with	disease	0.65
Parkinson	associated_with	disease	0.65
LRRK2	associated_with	gene	0.60
GPNMB	associated_with	gene	0.60
APOE	associated_with	gene	0.60
NUCKS1	associated_with	gene	0.60
JUN	activates	gene	0.60
CYP3A4	associated_with	gene	0.60
SLC6A3	associated_with	gene	0.60
SNCA	associated_with	gene	0.60
DRD2	associated_with	gene	0.60
SLC6A2	associated_with	gene	0.60
ABCB1	associated_with	gene	0.60
CYP2D6	associated_with	gene	0.60
SLC6A4	associated_with	gene	0.60
NDEL1	expressed_in	gene	0.60
FKBP5	expressed_in	gene	0.60
DRD2	transports	gene	0.60
SLC6A3	transports	gene	0.60
LRRK2	transports	gene	0.60
APOE	transports	gene	0.60
ABCB1	transports	gene	0.60
CYP3A4	transports	gene	0.60
SLC6A4	transports	gene	0.60
ATF4	activates	gene	0.60
FSP1	inhibits	gene	0.60
FSP1	regulates	gene	0.60
SCD1	activates	gene	0.60
GPNMB	transports	gene	0.60
NUCKS1	transports	gene	0.60
SNCA	transports	gene	0.60
CYP2D6	transports	gene	0.60
SLC6A2	transports	gene	0.60
Purkinje	activates	cell_type	0.60
VPS35	associated_with	gene	0.60
GBA1	associated_with	gene	0.60
TARDBP	associated_with	gene	0.60

Incoming (80)

Source	Relation	Type	Str
EFTUD2	promotes	gene	0.90
EFTUD2	upregulates	gene	0.88
DRD2	associated_with	gene	0.60
CYP3A4	associated_with	gene	0.60
SNCA	associated_with	gene	0.60
SLC6A2	associated_with	gene	0.60
JUN	activates	gene	0.60
SLC6A3	associated_with	gene	0.60
ABCB1	associated_with	gene	0.60
CYP2D6	associated_with	gene	0.60
SLC6A4	associated_with	gene	0.60
LRRK2	associated_with	gene	0.60
APOE	associated_with	gene	0.60
SLC6A4	expressed_in	gene	0.60
DICER1	expressed_in	gene	0.60
NR3C1	expressed_in	gene	0.60
IL1B	expressed_in	gene	0.60
AKT1	expressed_in	gene	0.60
COMT	expressed_in	gene	0.60
BDNF	expressed_in	gene	0.60
DISC1	expressed_in	gene	0.60
GPNMB	transports	gene	0.60
NUCKS1	transports	gene	0.60
CYP2D6	transports	gene	0.60
SLC6A2	transports	gene	0.60
SNCA	transports	gene	0.60
APOE	transports	gene	0.60
LRRK2	transports	gene	0.60
SLC6A3	transports	gene	0.60
SLC6A4	transports	gene	0.60
DRD2	transports	gene	0.60
SCD1	activates	gene	0.60
GPX4	inhibits	gene	0.60
DHODH	inhibits	gene	0.60
GPX4	regulates	gene	0.60
ABCB1	transports	gene	0.60
ATF4	activates	gene	0.60
ABCB1	translocates_to	gene	0.60
APOE	translocates_to	gene	0.60
CYP2D6	translocates_to	gene	0.60
CYP3A4	translocates_to	gene	0.60
DRD2	translocates_to	gene	0.60
ATP13A2	associated_with	gene	0.60
ATXN2	associated_with	gene	0.60
DNAJC13	associated_with	gene	0.60
FBXO7	associated_with	gene	0.60
GBA	associated_with	gene	0.60
CYP2C19	associated_with	gene	0.60
FSP1	inhibits	gene	0.60
DHODH	activates	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

GCH1

Understanding Entity Pages

Summary

Wiki Pages (21)

GCH1 Gene

sporadic-familial-pd-comparison

Calcium Dysregulation in Neurodegenerative Diseases

snca-protein

Ferroptosis

parkinsons-study-group

Autophagy-Impaired Neurons

Ferroptosis Pathway in Neurodegeneration

Ferroptosis Pathway in Alzheimer's Disease

SNCA→Alpha-synuclein→Parkinson's Disease Causal Chain

MDS 2026: Neuroprotection and Neurorestorative Strategies for Parkinson's Disease

Parkinson's Canada

GCH1 Protein

Multi-Ethnic Parkinson's Disease GWAS

Dopaminergic Substantia Nigra Neurons in Parkinson's Disease

Epigenetic Biomarkers in Neurodegenerative Diseases

Ferroptosis in Neurodegeneration

stress-granule-disease-comparison

DDC Gene