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.

198Connections

1Hypotheses

0Analyses

50Outgoing

50Incoming

0Experiments

0Debates

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	Actin, AND, ATF4, ATP, CANCER, DHODH
KG Connections	198 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

Wiki Pages (2)

Knowledge base pages for this entity

Canonical Page

GCH1 Gene

gene · 1292 words

→

GCH1 Protein

protein · 2360 words

→

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 (124)

Target	Relation	Type	Str
Als	activates	disease	0.75
Parkinson	protects_against	disease	0.65
Parkinson	activates	disease	0.65
Ms	associated_with	disease	0.65
Als	protects_against	disease	0.65
Chronic Kidney Disease	therapeutic_target	disease	0.65
Ms	activates	disease	0.65
Tumor	activates	disease	0.65
Cancer	activates	disease	0.65
Fibrosis	therapeutic_target	disease	0.65
Als	associated_with	disease	0.65
Parkinson	associated_with	disease	0.65
Als	expressed_in	disease	0.65
Alzheimer	associated_with	disease	0.65
ALS	activates	disease	0.65
THAP1	associated_with	gene	0.60
ANO3	associated_with	gene	0.60
GNAL	associated_with	gene	0.60
TOR1A	associated_with	gene	0.60
Parkinson's disease	associated_with	disease	0.60
GENES	transports	gene	0.60
PARKINSON'S DISEASE	activates	gene	0.60
PARKINSON	activates	gene	0.60
P53	activates	gene	0.60
RAB39B	associated_with	gene	0.60
ALZHEIMER	associated_with	gene	0.60
PARKINSON	associated_with	gene	0.60
Actin	activates	protein	0.60
Purkinje	activates	cell_type	0.60
ALS	associated_with	disease	0.60
Epigenetic	expressed_in	pathway	0.60
Akt	expressed_in	pathway	0.60
Ferroptosis	activates	pathway	0.60
CYP2D6	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
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

Incoming (74)

Source	Relation	Type	Str
EFTUD2	promotes	gene	0.90
EFTUD2	upregulates	gene	0.88
EFTUD2	activates	gene	0.60
CYP2C19	associated_with	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
DNA	activates	gene	0.60
PARKINSON'S DISEASE	activates	gene	0.60
PARKINSON	activates	gene	0.60
P53	activates	gene	0.60
FERROPTOSIS	activates	gene	0.60
MITOPHAGY	activates	gene	0.60
ROS	activates	gene	0.60
OXIDATIVE STRESS	activates	gene	0.60
FERROPTOSIS	inhibits	gene	0.60
CANCER	activates	gene	0.60
NAD	regulates	gene	0.60
APOPTOSIS	therapeutic_target	gene	0.60
PYROPTOSIS	therapeutic_target	gene	0.60
FERROPTOSIS	regulates	gene	0.60
GPX4	inhibits	gene	0.60
DHODH	inhibits	gene	0.60
GPX4	regulates	gene	0.60
SLC6A2	associated_with	gene	0.60
JUN	activates	gene	0.60
SLC6A3	associated_with	gene	0.60
SLC6A4	associated_with	gene	0.60
LRRK2	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	associated_with	gene	0.60
CYP2D6	associated_with	gene	0.60
CYP3A4	associated_with	gene	0.60
DRD2	associated_with	gene	0.60
ABCB1	associated_with	gene	0.60
SNCA	associated_with	gene	0.60

Targeting Hypotheses (1)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
GCH1/BH4 Axis Stabilization for Dual Ferroptosis and Mitocho	0.560	-	Ferroptosis in ALS and motor neuron dise

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

Hypotheses and analyses mentioning GCH1 in their description or question text

No additional research found