LRP2 Antibody – Rabbit Polyclonal

LRP2: Acts together with cubilin to mediate HDL endocytosis. May participate in regulation of parathyroid- hormone and para-thyroid-hormone-related protein release. Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS); also known as faciooculoacousticorenal syndrome (FOAR syndrome). DBS is a rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g. agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity. Belongs to the LDLR family.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Receptor, misc.

Chromosomal Location of Human Ortholog: 2 C2|2 40.74 cM

Cellular Component: apical part of cell; apical plasma membrane; brush border; brush border membrane; coated pit; cytoplasm; endocytic vesicle; endoplasmic reticulum; endosome; extracellular space; Golgi apparatus; lipid raft; lysosomal membrane; membrane; protein complex; receptor complex

Molecular Function: hemoglobin binding; hormone binding; lipoprotein transporter activity; low-density lipoprotein receptor binding; PDZ domain binding; protein binding; protein complex binding; receptor activity

Biological Process: cell proliferation; endosome transport; forebrain development; heart development; hemoglobin import; hormone secretion; lipoprotein transport; receptor-mediated endocytosis; response to X-ray; transcytosis; vitamin metabolic process