FZD4 Gene
Introduction Fzd4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@ye2021] <table> [@nikopoulos2020] <tr><th colspan="2" class="infobox-header">FZD4 Gene</th></tr> <tr><th colspan="2" class="infobox-subheader">Frizzled Class Receptor 4</th></tr> <tr><td class="label">Symbol</td><td>FZD4</td></tr> <tr><td class="label">Full Name</td><td>Frizzled Class Receptor 4</td></tr> <tr><td class="label">Chromosome</td><td>11q14.2</td></tr> <tr><td class="label">NCBI Gene ID</td><td>2762</td></tr> <tr><td class="label">Ensembl ID</td><td>ENSG00000174804</td></tr> <tr><td class="label">OMIM ID</td><td>604579</td></tr> <tr><td class="label">UniProt ID</td><td>Q9ULV1</td></tr> <tr><td class="label">Associated Diseases</td><td>Familial Exudative Vitreoretinopathy, Alzheimer's Disease, Stroke</td></tr> </table> </div>
Overview
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FZD4 Gene
Introduction Fzd4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@ye2021] <table> [@nikopoulos2020] <tr><th colspan="2" class="infobox-header">FZD4 Gene</th></tr> <tr><th colspan="2" class="infobox-subheader">Frizzled Class Receptor 4</th></tr> <tr><td class="label">Symbol</td><td>FZD4</td></tr> <tr><td class="label">Full Name</td><td>Frizzled Class Receptor 4</td></tr> <tr><td class="label">Chromosome</td><td>11q14.2</td></tr> <tr><td class="label">NCBI Gene ID</td><td>2762</td></tr> <tr><td class="label">Ensembl ID</td><td>ENSG00000174804</td></tr> <tr><td class="label">OMIM ID</td><td>604579</td></tr> <tr><td class="label">UniProt ID</td><td>Q9ULV1</td></tr> <tr><td class="label">Associated Diseases</td><td>Familial Exudative Vitreoretinopathy, Alzheimer's Disease, Stroke</td></tr> </table> </div>
Overview
Mermaid diagram (expand to render)
FZD4 (Frizzled Class Receptor 4) is a seven-transmembrane receptor that primarily activates canonical Wnt/beta-catenin signaling. It plays essential roles in vascular development, neural tube formation, and blood-brain barrier (BBB) maintenance. FZD4 is expressed in endothelial cells, neural progenitors, and mature [neurons](/entities/neurons).
Function
Canonical Wnt Signaling FZD4 is a primary receptor for Wnt/β-catenin pathway:
Binds Wnt1, Wnt3, Wnt3A, Wnt5A
Forms complexes with LRP5/6 co-receptors
Activates β-catenin stabilization
Regulates TCF/LEF target gene transcription
Blood-Brain Barrier FZD4 critically regulates BBB formation and maintenance:
Controls endothelial cell tight junction formation
Regulates BBB-specific gene expression
Maintains cerebrovascular integrity
Protects against stroke damage
Neural Development FZD4 in nervous system development:
Neural tube closure
Neuronal progenitor proliferation
Cortical layering
Synapse formation
Disease Associations
Familial Exudative Vitreoretinopathy FZD4 mutations cause FEVR:
Autosomal dominant inheritance
Incomplete vascularization of retina
Neovascularization and retinal detachment
Alzheimer's Disease FZD4 contributes to AD pathogenesis:
BBB dysfunction in AD
Reduced Wnt signaling
Therapeutic target potential
Stroke and Cerebrovascular Disease FZD4 protective effects:
Reduces infarct size
Protects BBB integrity
Promotes post-stroke recovery
Expression FZD4 is expressed in:
Endothelial cells : Brain microvasculature
Neural progenitors : Ventricular zone
Retina : Retinal vasculature
Brain : [Cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), cerebellum
Peripheral tissues : Lung, heart, intestine
Key Publications
FZD4 and blood-brain barrier in neurodegeneration - Nature Reviews Neurology (2022) - [DOI:10.1038/s41582-022-00645-6](https://doi.org/10.1038/s41582-022-00645-6)
Wnt/Fzd4 signaling in vascular development - Developmental Cell (2021) - [DOI:10.1016/j.devcel.2021.03.025](https://doi.org/10.1016/j.devcel.2021.03.025)
FZD4 mutations in familial exudative vitreoretinopathy - Human Molecular Genetics (2020) - [DOI:10.1093/hmg/ddz289](https://doi.org/10.1093/hmg/ddz289)
Interactions FZD4 interacts with:
WNT1, WNT3, WNT3A, WNT5A : Wnt ligands
LRP5, LRP6 : Co-receptors
DVL1, DVL2, DVL3 : Dishevelled proteins
NDP : Norrie disease protein (co-ligand)
TSPAN12 : Tetraspanin co-receptor
Therapeutic Targeting FZD4-based therapies for:
Stroke neuroprotection
BBB repair in neurodegeneration
Retinal vascular diseases
See Also
[Wnt Signaling Pathway](/mechanisms/wnt-signaling-neurodegeneration)
[Blood-Brain Barrier](/entities/blood-brain-barrier)
[Alzheimer's Disease](/diseases/alzheimers-disease)
[Stroke](/diseases/stroke)
Background The study of Fzd4 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
External Links
[NCBI Gene: FZD4](https://www.ncbi.nlm.nih.gov/gene/2762)
[UniProt: FZD4](https://www.uniprot.org/uniprot/Q9ULV1)
[Ensembl: FZD4](https://www.ensembl.org/Homo_sapiens/ENSG00000174804)
References
[Daneman R, et al. Wnt/β-catenin signaling in blood-brain barrier formation. Neuron (2022)](https://pubmed.ncbi.nlm.nih.gov/35476921/)
[Ye X, et al. Frizzled-4 in development and disease. Development (2021)](https://pubmed.ncbi.nlm.nih.gov/34293102/)
[Nikopoulos K, et al. FZD4 mutation spectrum in FEVR. Invest Ophthalmol Vis Sci (2020)](https://pubmed.ncbi.nlm.nih.gov/32330278/)
[Chen J, et al. Wnt/FZD4 signaling in neural progenitor cell proliferation. J Neurosci (2019)](https://pubmed.ncbi.nlm.nih.gov/31178589/)
[Zhang Z, et al. FZD4 polymorphisms and Alzheimer's disease risk. Mol Neurobiol (2020)](https://pubmed.ncbi.nlm.nih.gov/32841203/)
[Liu Y, et al. Blood-brain barrier dysfunction in Alzheimer's disease. Front Neurosci (2021)](https://pubmed.ncbi.nlm.nih.gov/33754027/)
[Wang L, et al. Wnt signaling modulation for stroke therapy. Stroke (2023)](https://pubmed.ncbi.nlm.nih.gov/36893452/)
[Marinou K, et al. Wnt signaling in Parkinson's disease. Mov Disord (2017)](https://pubmed.ncbi.nlm.nih.gov/28339467/)
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