PTPN11/A0020

Protein tyrosine phosphatase non-receptor type 11 (PTPN11), also known as A0020, is a 593 amino acid protein found on human chromosome 12.

Protein tyrosine phosphatase non-receptor type 11 (PTPN11), also known as A0020, is a 593 amino acid protein found on human chromosome 12. PTPN11 contains two tandem SRC homology-2 domains that mediate its substrate binding by regulating the phosphotyrosine content of intracellular proteins. PTPN11 is widely expressed in most tissues. It plays a regulatory role in cell signaling events such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene result in the human disorder Noonan syndrome. Here mutations specifically occur in the interface between the SH2 domain and catalytic core, which disrupts the enzyme’s confirmation. A subtype of Noonan syndrome, Leopard syndrome, also occurs in humans when the mutation is specifically confined the catalytic core of the enzyme. Homozygous mice die at mid-gestation while heterozygous mice appear normal.