| First Author | Garcia CK | Year | 2001 |
| Journal | Science | Volume | 292 |
| Issue | 5520 | Pages | 1394-8 |
| PubMed ID | 11326085 | Mgi Jnum | J:69669 |
| Mgi Id | MGI:1935055 | Doi | 10.1126/science.1060458 |
| Citation | Garcia CK, et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292(5520):1394-8 |
| abstractText | Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density lipoprotein receptors (LDLR). Two inherited forms of hypercholesterolemia result from loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations in the LDLR gene, and autosomal recessive hypercholesterolemia (ARH), of unknown etiology. Here we map the ARH locus to an approximately 1-centimorgan interval on chromosome 1p35 and identify six mutations in a gene encoding a putative adaptor protein (ARH). ARH contains a phosphotyrosine binding (PTB) domain, which in other proteins binds NPXY motifs in the cytoplasmic tails of cell-surface receptors, including the LDLR. ARH appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts. |
