LRP4

Description

The LRP4 (LDL receptor related protein 4) is a protein-coding gene located on chromosome 11.

LRP4 can refer to: Low-density lipoprotein receptor-related protein 4(LRP-4) also know as Multiple epidermal growth factor-like domains 7.

LRP4 is involved in the inhibition of bone formation, mediated by SOST. It acts as a facilitator in the SOST-mediated inhibition of Wnt signaling. LRP4 plays a crucial role in the formation and maintenance of the neuromuscular junction (NMJ), the connection between motor neurons and skeletal muscle. It binds directly to AGRIN, attracting it to the MUSK signaling complex. LRP4 facilitates the AGRIN-induced phosphorylation of MUSK, the kinase in this complex. Activation of MUSK in myotubes triggers NMJ formation through various processes, including gene transcription and clustering of acetylcholine receptors (AChR) in the postsynaptic membrane. LRP4 could also be involved in negatively regulating the canonical Wnt signaling pathway by opposing LRP6-mediated activation. It is thought to function as a cell surface endocytic receptor that binds and internalizes extracellular ligands for degradation by lysosomes. LRP4 may play a critical role in digit differentiation.

LRP4 is also known as CLSS, CMS17, LRP-4, LRP10, MEGF7, SOST2.

Associated Diseases

• Postsynaptic congenital myasthenic syndromes
• Sclerosteosis
• Cenani-Lenz syndactyly syndrome
• Cenani-Lenz syndrome
• Myasthenic syndrome, congenital, 17
• Sclerosteosis 2