英文名称
LRP2 Recombinant Rabbit mAb
英文别名
DBS; GP330; LRP-2; D230004K18Rik; Megalin; b2b1625.2Clo; LRP2_HUMAN; LRP2; Glycoprotein 330 (gp330); LRP2_MOUSE; LRP2_RAT; LDL receptor related protein 2; low density lipoprotein receptor-related protein 2
免疫原
Recombinant mouse LRP2 protein: 4551-4660/4660
性状
Size : 25ul/50ul/100ul/200ul
Liquid
Size : 200ug (PBS only)
Lyophilized
Note: Centrifuge tubes before opening. Reconstitute the lyophilized product in distilled water. Optimal concentration should be determined by the end user.
纯化方法
affinity purified by Protein A
储存液
Size : 25ul/50ul/100ul/200ul
0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Size : 200ug (PBS only)
0.01M PBS
保存条件
Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
背景资料
The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009].
蛋白名
Low-density lipoprotein receptor-related protein 2
亚基
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.
亚细胞定位
Membrane; Single-pass type I membrane protein. Membrane, coated pit.
组织特异性
Absorptive epithelia, including renal proximal tubules.
疾病
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.
相似性
Belongs to the LDLR family.
Contains 17 EGF-like domains.
Contains 36 LDL-receptor class A domains.
Contains 37 LDL-receptor class B repeats.
功能
Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.