Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferpH: 7.2
Preservative: 0.02% Sodium azide
Constituents: 40% Glycerol, PBS
Concentration information loading...
PurityImmunogen affinity purified
- Pathways and Processes
- Metabolic signaling pathways
- Lipid and lipoprotein metabolism
- Fatty acids
Our Abpromise guarantee covers the use of ab223754 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|IHC-P||1/50 - 1/200. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.|
FunctionActs together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid-hormone and para-thyroid-hormone-related protein release.
Tissue specificityAbsorptive epithelia, including renal proximal tubules.
Involvement in diseaseDefects 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 similaritiesBelongs to the LDLR family.
Contains 17 EGF-like domains.
Contains 36 LDL-receptor class A domains.
Contains 37 LDL-receptor class B repeats.
Cellular localizationMembrane. Membrane > coated pit.
- Information by UniProt
- Calcium sensor protein antibody
- DBS antibody
- Glycoprotein 330 antibody
ab223754 has not yet been referenced specifically in any publications.