Which protein is coded for by the gene associated with hypercholesterolemia?

Biology · High School · Mon Jan 18 2021

Answered on

  1. The protein that is coded for by the gene associated with familial hypercholesterolemia is called the low-density lipoprotein receptor (LDL receptor).
  2. This protein is primarily responsible for regulating cholesterol levels in the blood by removing low-density lipoprotein (LDL), often referred to as "bad" cholesterol, from the bloodstream. Mutations in the LDL receptor gene can lead to familial hypercholesterolemia, a genetic disorder characterized by high cholesterol levels, which increases the risk of cardiovascular disease.
  3. The gene associated with hypercholesterolemia is the LDLR gene, which encodes for the LDL receptor protein. Mutations in the LDLR gene can lead to familial hypercholesterolemia, a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol in the blood.
  4. The LDL receptor protein plays a crucial role in removing LDL cholesterol from the bloodstream by binding to LDL particles and facilitating their uptake into cells. Mutations in the LDLR gene can impair the function of the LDL receptor, resulting in reduced clearance of LDL cholesterol from the blood, leading to elevated cholesterol levels and an increased risk of cardiovascular diseases like atherosclerosis.

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