功能： disease:Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS) [MIM:222448]; also called faciooculoacousticorenal (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.,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.,similarity:Belongs to the LDLR family.,similarity:Contains 17 EGF-like domains.,similarity:Contains 36 LDL-receptor class A domains.,similarity:Contains 37 LDL-receptor class B repeats.,subunit:Binds plasminogen, extracellular matrix components, plasminogen activator-plasminogen activator inhibitor type I complex, apolipoprotein E-enriched beta-VLDL, lipoprotein lipase, lactoferrin, CLU/clusterin and calcium. Forms a multimeric complex together with a receptor-associated protein (RAP). Binds to ankyrin-repeat family A protein 2 (ANKRA2). Interacts with LRP2BP.,tissue specificity:Absorptive epithelia, including renal proximal tubules.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Single-pass type I membrane protein . Endosome lumen . Membrane, coated pit . Cell projection, dendrite . Cell projection, axon . Localizes to brush border membranes in the kidney. In the endolymphatic sac of the inner ear, located in the lumen of endosomes as a soluble form. .
组织表达： Expressed in first and third trimester cytotrophoblasts in the placenta (at protein level) (PubMed:27798286). Absorptive epithelia, including renal proximal tubules.
功能： disease:Defects in LRP2 are the cause of Donnai-Barrow syndrome (DBS) [MIM:222448]; also called faciooculoacousticorenal (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.,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.,similarity:Belongs to the LDLR family.,similarity:Contains 17 EGF-like domains.,similarity:Contains 36 LDL-receptor class A domains.,similarity:Contains 37 LDL-receptor class B repeats.,subunit:Binds plasminogen, extracellular matrix components, plasminogen activator-plasminogen activator inhibitor type I complex, apolipoprotein E-enriched beta-VLDL, lipoprotein lipase, lactoferrin, CLU/clusterin and calcium. Forms a multimeric complex together with a receptor-associated protein (RAP). Binds to ankyrin-repeat family A protein 2 (ANKRA2). Interacts with LRP2BP.,tissue specificity:Absorptive epithelia, including renal proximal tubules.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Apical cell membrane ; Single-pass type I membrane protein . Endosome lumen . Membrane, coated pit . Cell projection, dendrite . Cell projection, axon . Localizes to brush border membranes in the kidney. In the endolymphatic sac of the inner ear, located in the lumen of endosomes as a soluble form. .
组织表达： Expressed in first and third trimester cytotrophoblasts in the placenta (at protein level) (PubMed:27798286). Absorptive epithelia, including renal proximal tubules.
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