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]
Function:
Potential cell surface endocytic receptor, which binds and internalizes extracellular ligands for degradation by lysosomes. Involved in the negative regulation of the canonical Wnt signaling pathway, being able to antagonize the LRP6-mediated activation of this pathway.
Subunit:
Homooligomer. Interacts with MUSK; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK (By similarity). Interacts (via the extracellular domain) with SOST; the interaction facilitates the inhibition of Wnt signaling.
Subcellular Location:
Membrane.
Tissue Specificity:
Expressed in several regions of the brain.
DISEASE:
Defects in LRP4 are the cause of Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]. It is 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.
Similarity:
Belongs to the LDLR family.
Contains 3 EGF-like domains.
Contains 8 LDL-receptor class A domains.
Contains 20 LDL-receptor class B repeats.
SWISS:
O75096
Gene ID:
4038
Database links:
Entrez Gene: 4038 Human
Entrez Gene: 504317 Cow
Entrez Gene: 228357 Mouse
Entrez Gene: 83469 Rat
Omim: 604270 Human
SwissProt: O75096 Human
SwissProt: Q8VI56 Mouse
SwissProt: Q9Z319 Mouse
SwissProt: Q9QYP1 Rat
Unigene: 4930 Human
Unigene: 275149 Mouse
Unigene: 469960 Mouse
Unigene: 21381 Rat
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