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PTPN11 (NM_002834.3) encodes the Src homology-2 (SH2) domain-containing non-transmembrane protein tyrosine phosphatase, SHP2. SHP2 functions as part of the RAS-MAP kinase pathway, and is involved in complex intracellular signaling that regulates cellular proliferation, differentiation and apoptosis. PTPN11 is located at 12q24.13 and is composed of 15 exons.
PTPN11 mutations cause ~ 50% of Noonan syndrome (NS) and ~90% of Noonan syndrome with multiple lentigines (NSML). Both are autosomal dominant conditions characterized by short stature, congenital heart defects, and variable developmental delay. Hypertrophic cardiomyopathy and pulmonic stenosis are the most common heart defects seen in NS and NSML.