SHOC2

SHOC2 protein crystal structure

SHOC2

SHOC2 is a gene that encodes a protein involved in the regulation of cell growth and development. It is located on chromosome 10 in humans. Mutations in the SHOC2 gene have been associated with Noonan syndrome, a genetic disorder characterized by distinctive facial features, short stature, heart defects, and other developmental abnormalities.

Function

The SHOC2 protein plays a critical role in the RAS-MAPK signaling pathway, which is essential for cell proliferation, differentiation, and survival. By interacting with other proteins in the pathway, SHOC2 helps to transmit signals from cell surface receptors to the cell nucleus, where they regulate gene expression.

Clinical Significance

Mutations in the SHOC2 gene can disrupt normal signaling in the RAS-MAPK pathway, leading to dysregulation of cell growth and development. This can result in the development of Noonan syndrome, a condition that affects multiple organ systems and can have a significant impact on an individual's health and quality of life.

Research

Research into the function of the SHOC2 gene and its role in disease continues to expand our understanding of the molecular mechanisms underlying developmental disorders such as Noonan syndrome. By studying the effects of SHOC2 mutations in cellular and animal models, researchers hope to identify potential therapeutic targets for the treatment of these conditions.

See also

• Noonan syndrome
• RAS-MAPK pathway