PTPN11

PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11) is a gene that encodes the protein SH2 domain-containing protein tyrosine phosphatase-2 (SHP2). This protein is a key component in several cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation.

Function[edit | edit source]

The PTPN11 gene provides instructions for making the SHP2 protein, which is found in various cell types throughout the body. The SHP2 protein is involved in transmitting chemical signals from outside the cell to the cell's nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions (differentiate). The SHP2 protein is particularly important for the normal development and function of several body systems, including the cardiovascular system, the nervous system, and the endocrine system.

Clinical significance[edit | edit source]

Mutations in the PTPN11 gene are associated with Noonan syndrome and Leopard syndrome, both of which are autosomal dominant conditions that cause congenital heart defects, short stature, learning problems, and facial features that are distinctive to each condition. Mutations in this gene are also associated with juvenile myelomonocytic leukemia, a rare form of cancer that typically occurs in early childhood.

Research[edit | edit source]

Research into the PTPN11 gene and its associated protein, SHP2, is ongoing. Understanding the normal function of this gene and how mutations affect its function can lead to better treatments for the conditions associated with it. Current research is focused on understanding the role of the PTPN11 gene in normal development and disease, and developing targeted therapies for conditions caused by mutations in this gene.