|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Members of the PTP (protein tyrosine phosphatases) family help remove a phosphate group, a cluster of one phosphorus and three oxygen atoms, from other proteins. Specifically, these enzymes target an amino acid called tyrosine, which is one of the building blocks used to make proteins. Removal of a phosphate group from tyrosines modifies the activity of a protein. Based on the action of removing phosphate groups, these proteins are called phosphatases.
Through their phosphatase function, PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions.
When mutated, some PTP proteins are associated with various types of cancers, such as colorectal, lung, breast, and gastric cancers, and some leukemias. The mutations associated with cancers are somatic mutations, meaning they are not inherited and are not passed on to the next generation. Two examples of PTP genes that normally help regulate cell growth and division, but when mutated can lead to various cancers, are the PTEN and PTPN11 genes.
The PTP gene family is sometimes referred to as a superfamily, meaning that genes belonging to the superfamily can be further categorized into smaller subfamilies. The PTP superfamily has four such subfamilies categorized according to the function and structure of the proteins the genes produce.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of these members of the PTP gene family: EPM2A, EYA1, MTM1, MTMR2, PTEN, PTPN11, PTPN22, and SBF2.
Genetics Home Reference includes these conditions related to genes in the PTP gene family:
You may find the following resources about the PTP gene family helpful.
amino acid ; Asp ; cell ; cell nucleus ; colorectal ; epilepsy ; gastric ; gene ; inherited ; myoclonus ; nucleus ; oxygen ; phosphatase ; phosphate ; phosphorus ; protein ; receptor ; signal transduction ; specificity ; transduction ; transmembrane ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the PTP gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.