Chromosome 18 represents approximately 2.5% of the total DNA in cells.
|Summary:||Gene examples of chromosome 18:|
|The NPC1 (Niemann-Pick disease, type C1) gene encodes a protein that plays a role in the transport of cholesterol and other lipids across cell membranes. Mutations in the NPC1 gene often cause a deficiency of the NPC1 protein. As a result, the lipids in spleen, liver, lungs, bone marrow and brain accumulate to harmful amounts within the cells leading to cell death (Niemann-Pick disease).||The DYM gene encodes the protein dymeclin. Dymeclin is necessary for normal skeletal development and brain function. Mutations in the DYM gene are associated with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia, which involve both skeletal defects and mental retardation.|