LDL Tutorial

Problem 4: LDL Receptor Gene Mutations

LDL receptor gene mutations exist that lead to loss of the ability of the receptor to reside in coated pits for endocytosis. These mutations have been shown to occur in gene sequences coding for:

	the cytoplasmic portion of the receptor.
	regulators of the LDL receptor gene.
	the external amino acids of the receptor that reside outside the cell.
	the hydrophobic amino acids of the receptor that span the cell membrane.