Chromosome 12 represents between 4% and 4.5% of the total DNA in cells.
|Summary:||Gene examples of chromosome 12:|
|The PAH gene encodes the enzyme phenylalanine hydroxylase. Phenylalanine hydroxylase is responsible for the conversion of the amino acid phenylalanine to the amino acid tyrosine. Mutations in PAH can lead to phenylketonuria (PKU) with a reduction or loss of the activity of phenylalanine hydroxylase. As a result, the amino acid phenylalanine accumulates to toxic levels in the body, which can cause brain damage in people with untreated PKU.||VWF is the gene encoding for the von Willebrand factor, which functions both as a mediator between platelets and vessel wall and as an antihemophilic factor carrier. It is therefore necessary for hemostasis. Mutations in the VWF gene or deficiencies in the protein result in von Willebrand's disease, the most common inherited defect of the blood clotting system.|