Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Autosomal recessive hypercholesterolemia
LDLRAP1

References:

1.

Nagai M et al. (2003) The adaptor protein ARH escorts megalin to and through endosomes.

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2.

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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3.

Mishra SK et al. (2002) The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.

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4.

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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5.

OMIM.ORG article

Omim 605747 [^]
6.

Orphanet article

Orphanet ID 123023 [^]
7.

NCBI article

NCBI 26119 [^]
8.

Wikipedia article

Wikipedia EN (Low-density_lipoprotein_receptor_adapter_protein_1) [^]
Update: April 29, 2019