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LDL receptor gene is localized on chromosome 19 in man. The LDL receptor gene comprises 45 kb and consists of 18 exons. LDL receptor gene encodes 5.3 kb mRNA with the long 2.5 kb 3' untranslated region containing multiple Alu repeats. The polypeptide chain of the mature LDL receptor comprises 839 aminoacid residues. LDL receptor consists of 5 structural domains. The N-terminal domain of the LDL receptor is the ligand-binding domain and all other domains serve for internalization of the ligand bound to the receptor. The main function of the LDL receptor is the cellular cholesterol supply via receptor-mediated endocytosis.
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