HAND2

HAND2 is a protein that in humans is encoded by the HAND2 gene. HAND2 is a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in the development of the heart, nervous system, and limbs. It is also involved in the differentiation of trophoblast cells, which are essential for the formation of the placenta.

Function

HAND2 is a transcription factor that plays a crucial role in the development of various organs and tissues. It is particularly important in the development of the heart, where it helps to regulate the growth and differentiation of cardiac muscle cells. HAND2 also plays a role in the development of the nervous system and limbs, and is involved in the differentiation of trophoblast cells, which are essential for the formation of the placenta.

Clinical significance

Mutations in the HAND2 gene have been associated with several congenital heart defects, including hypoplastic left heart syndrome and ventricular septal defect. These conditions can lead to serious health problems, including heart failure and death. HAND2 has also been implicated in the development of certain types of cancer, including endometrial cancer and neuroblastoma.

Research

Research into the function of HAND2 and its role in disease is ongoing. Current areas of focus include understanding how mutations in the HAND2 gene lead to congenital heart defects, and investigating the potential role of HAND2 in cancer development and progression.

File:HAND2 protein structure.jpg

The structure of the HAND2 protein. Image from Wikimedia Commons.

See also

• Transcription factor
• Congenital heart defect
• Endometrial cancer
• Neuroblastoma