TAF1-related genetic disorders are caused by changes in the TAF1 gene. The TAF1 gene is located on the X chromosome and is thought to be important in the development and function of the brain and other organs.
Changes in the TAF1 gene have been linked to two different genetic conditions. One condition is called X linked dystonia parkinsonism (XLDP). This condition is caused by one particular type of genetic change (SVA retrotransposon insertion) and is not the condition discussed herein.
The other genetic condition known to be caused by changes in the TAF1 gene is known as X linked syndromic mental retardation 33 (MRXS33). All affected individuals have learning difficulties (intellectual disability), and many have medical conditions present from birth. This condition is caused by a range of different genetic changes in the TAF1 gene.