Chromosome Number : 19

Gene / Protein Name : LDLR
Low Density Lipoprotein Receptor

Autosomal Dominant because Familial hypercholesterolemia is inherited in families in an autosomal dominant manner.
-In autosomal dominant inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children.

Nucleotide Mutation: 100's of mutations are found in LDLR.
-The majority LDLR mutations are missense, small insertion,deletion and other point mutations , most of which are detected by full-gene sequencing.

Genetic Information.

Protein Function: The receptor binds to particles called low density lipoprotein which are the primary carriers of cholesterol in the blood. They sit on the outer surface of cells, where they pick up low density lipoprotein in the blood stream and transport them into the cell. It is broken down to release cholesterol . The cholesterol is used by the cell because it is stored , removed from the body. After the low density lipoprotein receptors drop off their cargo, they are recycled back to the cell surface to pick up more low density lipoproteins .Low-density lipoprotein receptors play a critical role in regulating the amount of cholesterol in the blood. They are particularly abundant in the liver, which is the organ responsible for removing most excess cholesterol from the body. The number of low-density lipoprotein receptors on the surface of liver cells determines how quickly cholesterol (in the form of low-density lipoproteins) is removed from the bloodstream.

Gene