PER3

PER3 is a gene that encodes the Period Circadian Regulator 3 protein in humans. This protein is a key component of the circadian rhythm, the body's internal clock that regulates sleep-wake cycles.

Function

The PER3 gene is part of the Period (PER) gene family, which plays a crucial role in the generation and regulation of circadian rhythms. The PER3 protein interacts with other circadian regulatory proteins to control the timing of various biological processes, including sleep.

Structure

The PER3 gene is located on the long (q) arm of chromosome 1 at position 36.23. It spans approximately 69 kilobases and contains 23 exons. The PER3 protein is composed of 1,204 amino acids and has a molecular weight of approximately 132 kilodaltons.

Clinical significance

Mutations in the PER3 gene have been associated with several sleep disorders, including Delayed Sleep Phase Syndrome (DSPS) and Familial Advanced Sleep Phase Syndrome (FASPS). These disorders are characterized by a persistent pattern of sleep disturbance, either difficulty falling asleep at night or waking up too early in the morning.

In addition, variations in the PER3 gene have been linked to differences in morning and evening preference, with certain variants associated with being a "morning person" or an "evening person."

Research

Research on the PER3 gene has provided insights into the genetic basis of circadian rhythms and sleep disorders. Studies have also suggested a potential role for PER3 in other biological processes and diseases, such as cancer and metabolic syndrome.

See also

• Circadian rhythm
• Period (PER) gene family
• Delayed Sleep Phase Syndrome (DSPS)
• Familial Advanced Sleep Phase Syndrome (FASPS)