Chromosome 12

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Genes

Chromosome 12 contains about 1,100 to 1,400 genes. Some of the genes that are located on Chromosome 12 include KRAS, which provides instructions for making a protein that is involved in regulating cell division, and POU1F1, which is involved in the development of the pituitary gland and its production of certain hormones.

Diseases and disorders

Certain genetic conditions are related to mutations in genes on Chromosome 12. For example, Noonan syndrome is associated with mutations in the KRAS gene. Other conditions, such as hypopituitarism, can result from mutations in the POU1F1 gene.

Research

Research is ongoing to identify additional genes on Chromosome 12 and to learn more about the role these genes play in health and disease. This research will lead to a better understanding of the genetic basis of many conditions and may eventually lead to new treatments.

See also

• Human genome
• Genetic disorder
• Gene therapy

References

• National Library of Medicine. Genetics Home Reference. Chromosome 12.
• National Human Genome Research Institute. Chromosome 12.