FRA10AC1

FRA10AC1 is a gene that is located on the human chromosome 10. It is associated with the fragile site FRAXE, which is a site on the X chromosome that is prone to breakage. The FRA10AC1 gene is believed to play a role in the development of intellectual disabilities, particularly in males.

Structure

The FRA10AC1 gene is located on the long (q) arm of chromosome 10 at position 26.3. The gene spans approximately 20 kilobases and consists of 2 exons. The FRA10AC1 gene produces a 1.4 kilobase mRNA transcript and encodes a protein of unknown function.

Function

The exact function of the FRA10AC1 gene is not well understood. However, it is known to be expressed in many tissues, including the brain, heart, and skeletal muscle. It is believed to play a role in the development and function of these tissues.

Clinical significance

Mutations in the FRA10AC1 gene have been associated with intellectual disabilities. In particular, a deletion of the FRA10AC1 gene has been identified in individuals with a form of intellectual disability known as FRAXE mental retardation. This condition is characterized by mild to moderate intellectual disability, behavioral problems, and physical features such as long face and large ears.

See also

• Chromosome 10 (human)
• Fragile X syndrome
• Intellectual disability

References

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