ARH1; ARH; ARH2; FHCB1; FHCB2; Autosomal recessive hypercholesterolemia protein

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

200ug/ml (lot specific)

Manufactured in an ISO 9001:2008 and ISO 13485:2003 Certified Laboratory.

Manufactured in a lab with traceable raw materials. Bulk orders can typically be prepared to the customera??s specifications, please inquire.

Small volumes of anti-LDLRAP1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Western Blot (WB), Immunohistochemistry (IHC)

33,885 Da

low density lipoprotein receptor adaptor protein 1

low density lipoprotein receptor adapter protein 1

Low density lipoprotein receptor adapter protein 1

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]

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: AP-1 adaptor complex; AP-2 adaptor complex; axon; basal plasma membrane; clathrin-coated vesicle membrane; cytoplasmic side of plasma membrane; cytosol; early endosome; neurofilament; plasma membrane; recycling endosome

Molecular Function: amyloid-beta binding; clathrin binding; low-density lipoprotein receptor binding; phosphatidylinositol-4,5-bisphosphate binding; phosphotyrosine binding; protein binding; receptor signaling complex scaffold activity

Biological Process: amyloid precursor protein metabolic process; cholesterol homeostasis; cholesterol metabolic process; positive regulation of receptor-mediated endocytosis; positive regulation of signal transduction; receptor internalization; receptor-mediated endocytosis; regulation of protein binding; transport

Disease: Hypercholesterolemia, Autosomal Recessive

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