What does the LDLR gene do?

What does the LDLR gene do?

The LDLR gene provides instructions for making a protein called the low-density lipoprotein receptor. This receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood.

Can mice get atherosclerosis?

Unlike humans, mice seldom develop atherosclerosis in the coronary arteries, but readily develop atherosclerosis in the aortic root. The much more rapid heart rate of the mouse and hence disturbed blood flow probably accounts for the atherosclerosis predilection at this site.

What are APOE -/- mice?

The Apoe−/− mouse was developed in 1992 by homologous recombination of embryonic stem cells, and it is currently the most widely used pre-clinical model of atherosclerosis [9, 26]. Apoe is a ligand for lipoprotein receptors involved in lipoprotein recognition and clearance.

What animals get atherosclerosis?

Is atherosclerosis a disease affecting all animals or only certain animals? Atherosclerosis affects only herbivores. Dogs, cats, tigers, and lions can be saturated with fat and cholesterol, and atherosclerotic plaques do not develop (1, 2).

How big is the LDLR gene?

28 polymorphisms located up to 2.4 Mb from the LDLR gene were genome-wide significantly associated with familial hypercholesterolemia. This work identified a combined LDL receptor and LDLRAP1 mutation as the cause for severe familial hypercholesterolemia in a family of Turkish descent.

What disease is associated with mutations in the LDLR gene provide the associated Omim entry number for the disease?

Hypercholesterolemia, familial – PS143890 – 10 Entries

Location Phenotype Gene/Locus
7p14.3 {Hypercholesterolemia, susceptibility to} GSBS
8p21.2-p21.1 {Hypercholesterolemia, familial, due to LDLR defect, modifier of} EPHX2
19p13.2 LDL cholesterol level QTL2 LDLR
19p13.2 Hypercholesterolemia, familial, 1 LDLR
  • October 8, 2022