Low Density Lipoprotein Receptor Adaptor Protein 1 Recombinant Protein | LDLRAP1 recombinant protein
Recombinant Human Low Density Lipoprotein Receptor Adaptor Protein 1
Sterile Filtered colorless solution.
Introduction: LDLRAP1 is a cytosolic protein that holds a phosphotyrosine binding (PTD) domain and performing as a cytosolic adaptor it couples LDLR to endocytic machinery. Mutations in LDLRAP1 are the reason for autosomal recessive hypercholesterolemia (ARH) which is a condition triggered by defective internalization of LDL receptors (LDLR) in the liver.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Uniprot Description
LDLRAP1: Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH). ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia (FH) homozygotes, including severely elevated plasma LDL cholesterol, tuberous and tendon xanthomata, and premature atherosclerosis. LDL receptor (LDLR) activity measured in skin fibroblasts is normal, as the LDL binding ability.
Chromosomal Location of Human Ortholog: 1p36.11
Cellular Component: recycling endosome; internal side of plasma membrane; AP-1 adaptor complex; axon; early endosome; neurofilament; basal plasma membrane; AP-2 adaptor complex; cytosol
Molecular Function: phosphatidylinositol-4,5-bisphosphate binding; clathrin binding; protein binding; receptor signaling complex scaffold activity; phosphotyrosine binding; low-density lipoprotein receptor binding; beta-amyloid binding
Biological Process: receptor-mediated endocytosis; cholesterol metabolic process; cholesterol homeostasis; positive regulation of signal transduction; amyloid precursor protein metabolic process; transport; receptor internalization; regulation of protein binding; positive regulation of receptor-mediated endocytosis
Disease: Hypercholesterolemia, Autosomal Recessive
Research Articles on LDLRAP1
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Product Notes
The LDLRAP1 ldlrap1 (Catalog #AAA145367) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: MGSSHHH HHH SSGLVPRGSH MDALKSAGRA LIRSPSLAKQ SWGGGGRHRK LPENWTDTRE TLLEGMLFSL KYLGMTLVEQ PKGEELSAAA IKRIVATAKA SGKKLQKVTL KVSPRGIILT DNLTNQLIEN VSIYRISYCT ADKMHDKVFA YIAQSQHNQS LECHAFLCTK RKMAQAVTLT VAQAFKVAFE FWQVSKEEKE KRDKASQEGG DVLGARQDCT PPLKSLVATG NLLDLEETAK APLSTVSANT TNMDEVPRPQ ALSGSSVVWE LDDGLDEAFS RLAQSRTNPQ VLDTGLTAQD MHYAQCLSPV DWDKPDSSGT EQDDLFSF. It is sometimes possible for the material contained within the vial of "Low Density Lipoprotein Receptor Adaptor Protein 1, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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