AFF2

AFF2 is a gene that encodes a protein known as Fragile X mental retardation syndrome-related protein 2. This protein is involved in the regulation of gene expression and plays a crucial role in the development and function of the nervous system. Mutations in the AFF2 gene are associated with a rare genetic disorder known as Fragile XE syndrome.

Structure[edit | edit source]

The AFF2 gene is located on the long (q) arm of the X chromosome at position 28. It spans approximately 650,000 base pairs and consists of 22 exons. The encoded protein, FMR2, is a nuclear protein that contains two nuclear localization signals and a nuclear export signal. It also contains a domain known as the AF4/FMR2 family, member 2 (AFF2) domain, which is thought to mediate protein-protein interactions.

Function[edit | edit source]

The FMR2 protein is believed to function as a transcriptional activator, regulating the expression of other genes. It is thought to play a crucial role in the development and function of the nervous system, particularly in the formation and maintenance of synapses, the junctions where nerve cells communicate with each other.

Clinical significance[edit | edit source]

Mutations in the AFF2 gene are associated with Fragile XE syndrome, a rare genetic disorder characterized by mild to moderate intellectual disability, behavioral problems, and physical abnormalities. The disorder is caused by a trinucleotide repeat expansion in the AFF2 gene, which leads to a decrease in the production of the FMR2 protein.