Recombinant Human Low density lipoprotein receptor adapter protein 1 (LDLRAP1)

1. LDLRAP1 associated with Familial Hypercholesterolemia and Polygenic Hypercholesterolemia in patients with Acute Coronary Syndrome , age /=160 mg/dl. PMID: 28958330
2. Numb specifically regulates NPC1L1-mediated cholesterol absorption both in human intestine and liver, distinct from ARH and Dab2, which selectively participate in LDLR-mediated LDL uptake. PMID: 25331956
3. Identification of ARH gene and characterization of its mutations in Autosomal Recessive Hypercholesterolemia patients [Review] PMID: 25225128
4. cells that depend upon ARH for LDL uptake can control which lipoproteins are internalized by their LDLRs through changes in nitric oxide. PMID: 23564733
5. This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent. PMID: 23510778
6. The report provides evidence that endocytosis of the ROMK potassium channel is controlled by LDLRAP1 (ARH). ROMK binds directly to the LDLRAP1, and this interaction is mediated by a novel variant of the canonical "NPXY" endocytotic signal, YxNPxFV. LDLRAP1-knockout mice are unable to physiologically regulate ROMK. PMID: 19841541
7. report the crystal structure at 1.37-A resolution of the phosphotyrosine-binding (PTB) domain of ARH in complex with an LDLR tail peptide containing the FxNPxY(0) internalization signal PMID: 22509010
8. LDL receptor/LDLRAP1 double heterozygous mutations may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in familial hypercholesterolemia patients. PMID: 21872251
9. ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence. PMID: 21778424
10. Knockdown of ARH in polarized epithelial cells leads to specific apical missorting of truncated LDLR, which encodes only the FxNPxY motif (LDLR-CT27). PMID: 21444685
11. newly identified a rare Thr56Met missense mutation located in the phosphotyrosine-binding domain of ARH; among 1,800 Japanese individuals, only 4 were heterozygous for Thr56Met and all had hypercholesterolemia resembling familiar hypercholesterolemia PMID: 20124734
12. Report prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. PMID: 19477448
13. ARH functions as an adaptor protein that couples LDLR to the endocytic machinery PMID: 12221107
14. The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. In ARH patients, defective sorting adaptor function in hepatocytes leads to faulty LDL receptor traffic and hypercholesterolemia. PMID: 12451172
15. restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression PMID: 12464675
16. Single nucleotide polymorphism discovered among normal subjects at position 604 (cytosine to thymine: ARH-604C to ARH-604T), which changes proline residue at 202 to serine. ARH caused by mutation of cytosine to adenine at this same position. PMID: 12788851
17. ARH facilitates endocytosis of megalin, escorts megalin along its endocytic route PMID: 14528014
18. findings indicate that low density lipoprotein (LDL) receptor adaptor protein(ARH) is required not only for internalization of the LDL.LDL Receptor complex but also for efficient binding of LDL to the receptor PMID: 15166224
19. Splice site mutant lacks 26 amino acids, resulting in the loss of beta-strands beta6 and beta7 from the PTB domain. PMID: 15599766
20. ARH protein has an AP-2 beta2 appendage-binding sequence PMID: 15728179
21. ARH is an endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles PMID: 16129683
22. Dab2 expression is exceptionally low in hepatocytes, likely accounting for the pathological hypercholesterolemia that accompanies ARH loss. PMID: 16870701
23. ARH might accelerate later steps in LDLR endocytosis in cooperation with AP-2. PMID: 16984970
24. Large deletion in the ARH gene is associated with autosomal recessive hypercholesterolemia PMID: 17686643
25. the endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis PMID: 18417616
26. PCSK9-mediated LDLR degradation is not entirely dependent on ARH function PMID: 19081568

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HGNC: 18640

OMIM: 603813

KEGG: hsa:26119

STRING: 9606.ENSP00000363458

UniGene: Hs.590911