PRDM16

PRDM16 or PR domain containing 16 is a protein that in humans is encoded by the PRDM16 gene. This protein is a transcriptional regulator that plays a crucial role in the development of brown adipose tissue (BAT) and the regulation of thermogenesis.

Function

PRDM16 is a transcriptional regulator that controls the development of brown adipose tissue (BAT) from myoblasts. It does this by activating the expression of BAT-specific genes and repressing the expression of muscle-specific genes. This process is crucial for the body's ability to generate heat, a process known as thermogenesis.

PRDM16 also plays a role in the development of the central nervous system and the cardiovascular system. It is involved in the differentiation of neurons and the formation of blood vessels.

Structure

The PRDM16 protein contains a PR domain, which is similar to a SET domain. This domain is responsible for the protein's ability to modify chromatin, the material that makes up chromosomes. The protein also contains two zinc finger domains, which allow it to bind to specific sequences of DNA.

Clinical significance

Mutations in the PRDM16 gene have been associated with a rare genetic disorder known as Sotos syndrome. This condition is characterized by overgrowth in childhood, distinctive facial features, and learning disabilities.

In addition, research has suggested that PRDM16 may play a role in the development of certain types of cancer, including leukemia and liposarcoma. Further research is needed to fully understand the role of this protein in cancer development and progression.

See also

• PR domain
• Brown adipose tissue
• Thermogenesis
• Sotos syndrome