Chromosome 17 represents between 2.5% and 3% of the total DNA in cells.
|Summary:||Gene examples of chromosome 17:|
|The CTNS gene encodes the protein cystinosin. This protein transports the amino acid cystine out of lysosomes. Lysosomes are specialized cell structures, where amino acids result from the digestion of defective or unnecessary proteins. Mutations in CTNS cause a defect or missing cystinosin and the amino acid cystine accumulates and crystallizes in the lysosomes. This results in damaged cells mainly in the kidneys and eyes (cystinosis).||The RAI1 gene encodes a protein which is active in nerve cells in the brain and may be involved in the development of the nervous system. Loss of a specific region of chromosome 17 that contains the RAI1 causes the Smith-Magenis syndrome. This chromosomal defect is congenital and can show features like moderate mental retardation, distinctive facial features, sleep disturbances, behavioral problems, short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature or a hoarse voice.|