FTO, also known as Fatso or KIAA1752, is a 505 amino acid protein that has an N-terminal nuclear localization signal. Expressed in a variety of tissues, with highest levels present in brain and pancreatic tissue, Fatso exists as four alternatively spliced isoforms, one of which is associated with a predisposition to childhood and adult obesity. Due to its involvement in the development of obesity, Fatso is associated with an increased BMI and may be involved in the pathogenesis of type 2 diabetes. The gene encoding Fatso maps to human chromosome 16, which encodes over 900 genes and comprises nearly 3% of the human genome. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, as is Crohn's disease, which is a gastrointestinal inflammatory condition.
