Anti-Lrp2 / Megalin antibody (ab56014)

Function

Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.

Tissue specificity

Absorptive epithelia, including renal proximal tubules.

Involvement in disease

Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS) [MIM:222448]; 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.

Sequence similarities

Belongs to the LDLR family.
Contains 17 EGF-like domains.
Contains 36 LDL-receptor class A domains.
Contains 37 LDL-receptor class B repeats.

Cellular localization

Membrane. Membrane > coated pit.

Alternative names

Database links