rs373537430
This variant is located in the PTPN11 gene.
▶ClinVar annotation
Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
View on ClinVar →About PTPN11
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. [provided by RefSeq, Aug 2016]
View all PTPN11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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