BHLHE41

BHLHE41 (also known as Basic Helix-Loop-Helix Family Member E41) is a protein that in humans is encoded by the BHLHE41 gene. It is a transcription factor that plays a crucial role in the regulation of circadian rhythms and sleep.

Function

BHLHE41 is a member of the basic helix-loop-helix (bHLH) family of transcription factors. These proteins are characterized by a bHLH domain, which allows them to bind to DNA and regulate gene expression. BHLHE41 is involved in the regulation of the circadian rhythm, the body's internal clock that regulates sleep-wake cycles. It is also involved in the regulation of cell differentiation and apoptosis, the process of programmed cell death.

Clinical significance

Mutations in the BHLHE41 gene have been associated with familial natural short sleeper syndrome, a condition characterized by a naturally short sleep duration. Individuals with this condition typically sleep less than six hours per night, but do not experience any negative effects typically associated with sleep deprivation.

In addition, BHLHE41 has been implicated in the development of certain types of cancer. Overexpression of BHLHE41 has been observed in melanoma and breast cancer, suggesting a potential role in tumorigenesis.

See also

• Basic helix-loop-helix
• Circadian rhythm
• Familial natural short sleeper