FXR1

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Description

The FXR1 gene, located on the X chromosome, is responsible for producing a protein known as fragile X mental retardation protein (FMRP). FMRP plays a crucial role in regulating protein synthesis in the brain, influencing neuronal development and function. Mutations in the FXR1 gene, particularly expansions of a trinucleotide repeat sequence, lead to Fragile X Syndrome (FXS), the most common inherited form of intellectual disability. Individuals with FXS exhibit a range of symptoms including intellectual disability, cognitive impairment, behavioral challenges, and characteristic physical features.

Associated Diseases

• Fragile X Syndrome (FXS)
• Autism Spectrum Disorder (ASD)
• Attention-Deficit/Hyperactivity Disorder (ADHD)
• Anxiety Disorders
• Depression
• Epilepsy
• Learning Disabilities
• Delayed Speech and Language Development

Did you know?

Mutations in the FXR1 gene are responsible for approximately 1 in 4000 males and 1 in 8000 females.