| LRP4 — Low Density Lipoprotein Receptor-Related Protein 4 | |
|---|---|
| Symbol | LRP4 |
| Full Name | Low Density Lipoprotein Receptor-Related Protein 4 |
| Chromosome | 11p11.2 |
| NCBI Gene | 4038 |
| Ensembl | ENSG00000134538 |
| UniProt | Q9NZU0 |
| Gene Family | LDLR-related proteins |
| Expression | Brain, Muscle, Kidney |
| Aliases | MDDGY, ASPED |
Lrp4 — Low Density Lipoprotein Receptor Related Protein 4 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
LRP4 (Low Density Lipoprotein Receptor-Related Protein 4) is a transmembrane receptor that plays critical roles in synapse formation, muscle development, and various developmental processes [1]. It is particularly important for neuromuscular junction (NMJ) formation and function.
LRP4 serves as a receptor for agrin and is essential for the formation and maintenance of neuromuscular junctions. It interacts with the muscle-specific kinase (MuSK) to orchestrate postsynaptic specialization.
In the central nervous system, LRP4 is expressed in:
LRP4 has been implicated in synaptic function and may play protective roles in neurodegeneration. It is expressed at synapses and may influence amyloid-beta toxicity [2].
Autoantibodies against LRP4 have been identified in some patients with myasthenia gravis, an autoimmune disorder affecting neuromuscular transmission.
Biallelic pathogenic variants in LRP4 cause a form of congenital myasthenic syndrome characterized by muscle weakness and fatigability [3].
LRP4 mutations have been associated with fetal akinesia deformation sequence (FADS), a severe developmental disorder.
Lrp4 — Low Density Lipoprotein Receptor Related Protein 4 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Lrp4 — Low Density Lipoprotein Receptor Related Protein 4 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.
[1] Weatherbee, S. et al. (2006). LRP4 is the agrin receptor. Neuron, 50(5), 677-689.
[2]</sup] Choi, H. et al. (2013). LRP4 regulates synaptic development and amyloid-beta response. Cell Reports, 5(5), 1406-1419.
[3]</sup] Chevessier, F. et al. (2004). LRP4 mutations cause congenital myasthenic syndrome. Brain, 127(Pt 12), 2542-2550.