LDLRAP1

Low density lipoprotein receptor adaptor protein 1, also known as LDLRAP1, is a human gene.cite web | title = Entrez Gene: LDLRAP1 low density lipoprotein receptor adaptor protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26119| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: LDLRAP1 low density lipoprotein receptor adaptor protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26119| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Barbagallo CM, Emmanuele G, Cefalù AB, "et al." |title=Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. |journal=Atherosclerosis |volume=166 |issue= 2 |pages= 395–400 |year= 2003 |pmid= 12535754 |doi=
*cite journal | author=Garcia CK, Wilund K, Arca M, "et al." |title=Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. |journal=Science |volume=292 |issue= 5520 |pages= 1394–8 |year= 2001 |pmid= 11326085 |doi= 10.1126/science.1060458
*cite journal | author=Arca M, Zuliani G, Wilund K, "et al." |title=Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. |journal=Lancet |volume=359 |issue= 9309 |pages= 841–7 |year= 2002 |pmid= 11897284 |doi=
*cite journal | author=Al-Kateb H, Bähring S, Hoffmann K, "et al." |title=Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. |journal=Circ. Res. |volume=90 |issue= 9 |pages= 951–8 |year= 2002 |pmid= 12016260 |doi=
*cite journal | author=He G, Gupta S, Yi M, "et al." |title=ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2. |journal=J. Biol. Chem. |volume=277 |issue= 46 |pages= 44044–9 |year= 2003 |pmid= 12221107 |doi= 10.1074/jbc.M208539200
*cite journal | author=Wilund KR, Yi M, Campagna F, "et al." |title=Molecular mechanisms of autosomal recessive hypercholesterolemia. |journal=Hum. Mol. Genet. |volume=11 |issue= 24 |pages= 3019–30 |year= 2003 |pmid= 12417523 |doi=
*cite journal | author=Mishra SK, Watkins SC, Traub LM |title=The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 25 |pages= 16099–104 |year= 2003 |pmid= 12451172 |doi= 10.1073/pnas.252630799
*cite journal | author=Eden ER, Patel DD, Sun XM, "et al." |title=Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. |journal=J. Clin. Invest. |volume=110 |issue= 11 |pages= 1695–702 |year= 2003 |pmid= 12464675 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Jones C, Hammer RE, Li WP, "et al." |title=Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. |journal=J. Biol. Chem. |volume=278 |issue= 31 |pages= 29024–30 |year= 2003 |pmid= 12746448 |doi= 10.1074/jbc.M304855200
*cite journal | author=Harada-Shiba M, Takagi A, Miyamoto Y, "et al." |title=Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 6 |pages= 2541–7 |year= 2003 |pmid= 12788851 |doi=
*cite journal | author=Nagai M, Meerloo T, Takeda T, Farquhar MG |title=The adaptor protein ARH escorts megalin to and through endosomes. |journal=Mol. Biol. Cell |volume=14 |issue= 12 |pages= 4984–96 |year= 2004 |pmid= 14528014 |doi= 10.1091/mbc.E03-06-0385
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Michaely P, Li WP, Anderson RG, "et al." |title=The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits. |journal=J. Biol. Chem. |volume=279 |issue= 32 |pages= 34023–31 |year= 2004 |pmid= 15166224 |doi= 10.1074/jbc.M405242200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Canizales-Quinteros S, Aguilar-Salinas CA, Huertas-Vázquez A, "et al." |title=A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. |journal=Hum. Genet. |volume=116 |issue= 1-2 |pages= 114–20 |year= 2005 |pmid= 15599766 |doi= 10.1007/s00439-004-1192-9
*cite journal | author=Mishra SK, Keyel PA, Edeling MA, "et al." |title=Functional dissection of an AP-2 beta2 appendage-binding sequence within the autosomal recessive hypercholesterolemia protein. |journal=J. Biol. Chem. |volume=280 |issue= 19 |pages= 19270–80 |year= 2005 |pmid= 15728179 |doi= 10.1074/jbc.M501029200
*cite journal | author=Sirinian MI, Belleudi F, Campagna F, "et al." |title=Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. |journal=J. Biol. Chem. |volume=280 |issue= 46 |pages= 38416–23 |year= 2006 |pmid= 16129683 |doi= 10.1074/jbc.M504343200
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209

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