Back to Search
Start Over
Role of PTPN11 (SHP2) in Cancer
- Source :
- Protein Tyrosine Phosphatases in Cancer ISBN: 9781493936472
- Publication Year :
- 2016
- Publisher :
- Springer New York, 2016.
-
Abstract
- Src homology-2 domain-containing phosphatase 2 (SHP2), encoded by the PTPN11 gene, is a highly conserved, non-transmembrane protein-tyrosine phosphatase (PTP), found in all metazoans. The molecular details of SHP2 regulation by phosphotyrosyl (pTyr) peptide ligand binding are well-understood, and knowledge of these details is critical to understanding SHP2 function in health and disease. Studies using mice with gain- or loss-of-function alleles of Ptpn11 have provided much detail about the physiological functions and signaling pathways regulated by SHP2 at the cellular and whole organism levels. Germline mutations in PTPN11 cause Noonan syndrome, Noonan syndrome with multiple lentigines (previously, LEOPARD syndrome), as well as the cartilage tumor syndrome, metachondromatosis. Somatic PTPN11 mutations occur in several types of hematologic malignancy, most notably juvenile myelomonocytic leukemia and, more rarely, in neuroblastoma and other solid tumors. PTPN11 is crucial for transformation initiated by mutant receptor-tyrosine kinases (RTKs) and is an important effector of H. pylori virulence. However, the direct target(s) of SHP2 responsible for its physiological and pathological effects remain controversial and their identification remains a major goal for the future research.
- Subjects :
- musculoskeletal diseases
0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Cell signaling
Juvenile myelomonocytic leukemia
Biology
medicine.disease
LEOPARD Syndrome
PTPN11
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
Germline mutation
030220 oncology & carcinogenesis
medicine
Cancer research
Noonan syndrome
Noonan Syndrome with Multiple Lentigines
Metachondromatosis
Subjects
Details
- ISBN :
- 978-1-4939-3647-2
- ISBNs :
- 9781493936472
- Database :
- OpenAIRE
- Journal :
- Protein Tyrosine Phosphatases in Cancer ISBN: 9781493936472
- Accession number :
- edsair.doi...........8e6480362d1f33270791ea028a11b8a1