chromosome 18

Chromosome 18 represents approximately 2.5% of the total DNA in cells.

Summary:Gene examples of chromosome 18:
  • autosome
  • small sized chromosome
  • about 76.000.000 base pairs
  • about 432 genes
 
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.
chromosome overview (scaled down):
overview chromosome 18
Legend:
adenine (A)
thymine (T)
guanine (G)
cytosine (C)
not yet determined (N)
Legend:
adenine (A)
thymine (T)
guanine (G)
cytosine (C)
not yet determined (N)