HAND1

HAND1 is a protein that in humans is encoded by the HAND1 gene. HAND1 is a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in heart development, placental development, and neurogenesis.

Function

HAND1 is a member of the bHLH family of transcription factors which play a fundamental role in a variety of developmental processes. HAND1 is essential for cardiac morphogenesis, particularly for the development of the right ventricle and the aortic arch arteries. It is also involved in early placental development and is expressed in trophoblast cells.

Clinical significance

Mutations in the HAND1 gene have been associated with congenital heart disease and other developmental disorders. For example, a rare genetic disorder known as Heart-Hand syndrome, which is characterized by heart and limb malformations, has been linked to mutations in the HAND1 gene.

Structure

The HAND1 protein consists of a basic domain, which is used for DNA binding, and a helix-loop-helix (HLH) domain, which facilitates protein-protein interactions. The HLH domain is a common feature of many transcription factors and is crucial for their function.

Expression

HAND1 is expressed in a variety of tissues during embryonic development, including the heart, placenta, and certain regions of the brain. Its expression is tightly regulated and is crucial for normal development.

See also

• Heart-Hand syndrome
• Transcription factor
• Congenital heart disease

External links

• GeneCards - HAND1