Aliases for LRP4 Gene
External Ids for LRP4 Gene
Previous GeneCards Identifiers for LRP4 Gene
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
GeneCards Summary for LRP4 Gene
LRP4 (LDL Receptor Related Protein 4) is a Protein Coding gene. Diseases associated with LRP4 include Cenani-Lenz Syndactyly Syndrome and Myasthenic Syndrome, Congenital, 17. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. Gene Ontology (GO) annotations related to this gene include calcium ion binding and scaffold protein binding. An important paralog of this gene is LRP2.
UniProtKB/Swiss-Prot Summary for LRP4 Gene
Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Plays a key role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between motor neuron and skeletal muscle. Directly binds AGRIN and recruits it to the MUSK signaling complex. Mediates the AGRIN-induced phosphorylation of MUSK, the kinase of the complex. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynaptic membrane. Alternatively, may be involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway. More generally, has been proposed to function as a cell surface endocytic receptor binding and internalizing extracellular ligands for degradation by lysosomes. May play an essential role in the process of digit differentiation (By similarity).