FMR1

FMR1 is a human gene that codes for a protein called FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of the FMR1 gene can lead to a variety of genetic disorders, including Fragile X syndrome, FXTAS, and FXPOI.

Structure

The FMR1 gene is located on the long (q) arm of the X chromosome at position 27.3, from base pair 146,699,183 to base pair 146,744,856. It spans about 38 kilobases and comprises 17 exons. The FMR1 gene produces an mRNA molecule which is approximately 4.4 kilobases long.

Function

The FMR1 gene produces the FMRP protein, which is involved in the maturation and elimination of synapses, the specialized junctions through which neurons communicate. FMRP binds to specific mRNA molecules and regulates their translation, the process by which the genetic instructions in mRNA molecules are read to build proteins.

Clinical significance

Mutations in the FMR1 gene are associated with several genetic disorders. The most common is Fragile X syndrome, which is characterized by intellectual disability, behavioral and learning challenges, and various physical characteristics. FXTAS and FXPOI are less common conditions that are also caused by changes in the FMR1 gene.

See also

• Fragile X syndrome
• FXTAS
• FXPOI