Gene of autosomal recessive hypercholesterolemia
The protein encoded by this gene is involved in LDL receptor binding. Mutations are rare and cause hypercholesterolemia. Autosomal recessive hypercholesterolemia is a bit confusing term because all the mutations causing hypercholesterolemia exert their dose dependent influence.
Gene Regulation
The function of this protein is to direct the synthesized LDL receptor to the sinuoidal membrane of hepatocytes.[Error: Macro 'ref' doesn't exist]
Genetests:
Related Diseases:
References:
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Nagai M et al. (2003) The adaptor protein ARH escorts megalin to and through endosomes.
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He G et al. (2002) ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.
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Mishra SK et al. (2002) The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.
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Michaely P et al. (2004) The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.
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OMIM.ORG article
Omim 605747
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Orphanet article
Orphanet ID 123023
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NCBI article
NCBI 26119
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8. |
Wikipedia article
Wikipedia EN (Low-density_lipoprotein_receptor_adapter_protein_1)
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Update: Aug. 14, 2020