Family

Low-density lipoprotein receptor-related protein 4 (IPR030799)

Short name: LRP4

Family relationships

None.

Description

LRP4 belongs to the low density lipoprotein-receptor gene family, whose members are involved in endocytosis of a large number of macromolecules and function as direct signal transducers or modulators of several fundamental signal transduction pathways, including BMP, TGFbeta, PDGF, reelin and canonical Wnt signalling [PMID: 19936252]. LRP4 is a multifunctional protein that has been associated with bone density (BMD) [PMID: 19079262]. It coordinates BMP and Wnt signalling activities in epithelial-mesenchymal cell communication during development [PMID: 21108386, PMID: 19116665]. In mice it is important for the proper development and morphogenesis of limbs, ectodermal organs, lungs and kidneys, and is crucial for formation of the neuromuscular junction [PMID: 17119023].

Mutations in the LRP4 gene cause limb and kidney malformations in Cenani-Lenz syndrome [PMID: 20381006].

GO terms

Biological Process

GO:0030509 BMP signaling pathway
GO:0048513 animal organ development
GO:0060828 regulation of canonical Wnt signaling pathway

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER