Please be on the look out for
Ambry Representatives at :
Canadian College of Medical Geneticists: (CCMG)
Annual Meeting 2013
11/7 - 11/9
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation.
This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration.
Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia.