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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCHFR
GTP cyclohydrolase I feedback regulator
Chromosome 15 · 15q15.1
NCBI Gene: 2644Ensembl: ENSG00000137880.6HGNC: HGNC:4194UniProt: P30047
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear membraneprotein bindingnucleoplasmdendritebenign neoplasm of eyeasthmaneoplasmPituitary Gland Adenoma
✦AI Summary

GCHFR (GTP cyclohydrolase I feedback regulator) encodes the regulatory protein GFRP, which mediates tetrahydrobiopterin (BH4) feedback inhibition of GTP cyclohydrolase I (GCH1), the rate-limiting enzyme in BH4 biosynthesis 1. This inhibition is reversed by L-phenylalanine, enabling metabolic sensing of cellular cofactor availability 2. GFRP binds GCH1 to form inhibited complexes when BH4 levels are high, but rapidly dissociates in the presence of phenylalanine, promoting BH4 synthesis 2. Since BH4 is essential for synthesis of neurotransmitters including serotonin, dopamine, and nitric oxide, GCHFR variants have psychiatric implications. Promoter polymorphisms (rs7164342, rs7163862) affect transcriptional activity and may influence SSRI antidepressant response, with the TT haplotype showing reduced transcription and altered antidepressant efficacy 3. GCHFR dysregulation has been identified in multiple diseases: altered expression in asthma pathogenesis 4, differential regulation in common variable immunodeficiency with duodenal inflammation 5, schizophrenia (associated with systemic BH4 deficiency) 6, and gout (with causal relationships to specific gut microbial taxa) 7. These findings suggest GCHFR represents a therapeutic target across metabolic, immunological, and neuropsychiatric disorders.

Sources cited
1
GFRP mediates BH4-mediated feedback inhibition of GTPCH I and its regulation by phenylalanine
PMID: 12607127
2
Structural mechanism of GFRP-GCH1 complex formation with effector-dependent binding of BH4 and phenylalanine
PMID: 33387654
3
GCHFR promoter polymorphisms affect transcriptional activity and SSRI antidepressant response
PMID: 20351752
4
GCHFR identified as protein with putative causal role in asthma risk through genetic causal inference
PMID: 40187354
5
GCHFR among four proteins differentially regulated in CVID with altered viral response
PMID: 36220400
6
BH4 system deficiency in schizophrenia with GCHFR gene sequence analysis
PMID: 16244500
7
GCHFR identified as causal gene in gout with associations to gut microbiota composition and dysregulation in patient cohorts
PMID: 41422660
Disease Associationsⓘ20
benign neoplasm of eyeOpen Targets
0.26Weak
asthmaOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
Pituitary Gland AdenomaOpen Targets
0.07Suggestive
lung cancerOpen Targets
0.06Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.06Suggestive
severe malarial anemiaOpen Targets
0.06Suggestive
diffuse large B-cell lymphomaOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
nasopharyngeal carcinomaOpen Targets
0.04Suggestive
systemic sclerodermaOpen Targets
0.04Suggestive
proliferative diabetic retinopathyOpen Targets
0.04Suggestive
sarcoidosisOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
prostate cancerOpen Targets
0.03Suggestive
essential hypertensionOpen Targets
0.03Suggestive
melanomaOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTSProtein interaction99%GCH1Protein interaction71%SPRProtein interaction71%NOSIPShared pathway33%NOS1APShared pathway14%CD47Shared pathway5%
Tissue Expression6 tissues
Liver
100%
Brain
22%
Lung
15%
Ovary
9%
Bone Marrow
9%
Heart
2%
Gene Interaction Network
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GCHFRPTSGCH1SPRNOSIPNOS1APCD47
PROTEIN STRUCTURE
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PDB7ALC · 1.73 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.68 [0.86–1.95]
RankingsWhere GCHFR stands among ~20K protein-coding genes
  • #11,925of 20,598
    Most Researched30
  • #17,652of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedGCHFR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integration of biobank-scale genetics and plasma proteomics reveals evidence for causal processes in asthma risk and heterogeneity.
PMID: 40187354
Cell Genom · 2025
1.00
2
Duodenal inflammation in common variable immunodeficiency has altered transcriptional response to viruses.
PMID: 36220400
J Allergy Clin Immunol · 2023
0.90
3
A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants.
PMID: 20351752
Pharmacogenomics J · 2011
0.80
4
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
PMID: 25802735
Mol Autism · 2014
0.70
5
Evidence for a tetrahydrobiopterin deficit in schizophrenia.
PMID: 16244500
Neuropsychobiology · 2005
0.60