Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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
Update:
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