LRP4

This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling.

LRP4

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).

Amyloid-beta clearance by cellular catabolic processManual Assertion Based On ExperimentIMP:ARUK-UCL
Dendrite morphogenesisISS:UniProtKB
Dorsal/ventral pattern formationIEA:Ensembl
Embryonic digit morphogenesisIEA:Ensembl
EndocytosisIEA:UniProtKB-KW
Generation of neuronsManual Assertion Based On ExperimentIBA:GO_Central
Hair follicle developmentIEA:Ensembl
Kidney developmentManual Assertion Based On ExperimentIDA:UniProtKB
Limb developmentManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of axonogenesisISS:UniProtKB
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of ossificationManual Assertion Based On ExperimentIMP:UniProtKB
Odontogenesis of dentin-containing toothIEA:Ensembl
Positive regulation of peptidyl-tyrosine phosphorylationIEA:Ensembl
Positive regulation of presynaptic membrane organizationISS:UniProtKB
Positive regulation of skeletal muscle acetylcholine-gated channel clusteringIEA:Ensembl
Postsynaptic membrane assemblyISS:UniProtKB
Presynaptic membrane assemblyISS:UniProtKB
Proximal/distal pattern formationIEA:Ensembl
Skeletal muscle acetylcholine-gated channel clusteringISS:UniProtKB
Synapse organizationISS:UniProtKB
Synaptic assembly at neuromuscular junctionISS:UniProtKB
Wnt signaling pathwayIEA:UniProtKB-KW

Cell membrane

Cenani-Lenz syndactyly syndrome (CLSS):
A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.
Sclerosteosis 2 (SOST2):
A sclerosing bone dysplasia characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients.
Myasthenic syndrome, congenital, 17 (CMS17):
A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort.

Extracellular: 21-1725
Helical: 1726-1746
Cytoplasmic: 1747-1905