What is PTEN stand for?
What is PTEN? PTEN stands for Phosphatase and TENsin homolog deleted on chromosome 10 and is a classical tumor suppressor gene located in the 10q23 region of chromosome 10 encoding for a 403-aminoacid multifunctional protein (predicted MW 47 kDa), which possesses lipid and protein phosphatase activities.
What is PTEN loss?
PTEN loss is associated with cytokine and chemokine signalling that creates an immunosuppressive microenvironment. The TME becomes populated with immune cells that suppress the antitumour response, such as myeloid-derived suppressor cells (MDSCs), regulatory (Treg) cells and M2 macrophages (left side).
What type of gene is PTEN?
GeneCards Summary for PTEN Gene PTEN (Phosphatase And Tensin Homolog) is a Protein Coding gene. Diseases associated with PTEN include Cowden Syndrome 1 and Macrocephaly/Autism Syndrome. Among its related pathways are Metabolism and T-Cell Receptor and Co-stimulatory Signaling.
What type of protein is PTEN?
PTEN is a 403-amino acid protein that shares sequence homology with tensin and auxilin at its amino-terminal. The hosphatase domain (PTPase) contains the signature CX5R (HCKAGKGR) p-loop structure for phosphatases. The C2 domain contains the affinity for phospho-lipids.
What type of mutation is PTEN?
Acquired (also known as somatic) PTEN genetic mutations are one of the commonly found mutations in human cancer. These mutations have been found in many different types of cancer, including prostate cancer, uterine cancer, and some types of brain tumors.
What causes PTEN mutation?
A PTEN genetic mutation can be inherited from your parents, or acquired later in life from the environment or from a mistake that happens in your body during cell division. An inherited PTEN mutation can cause a variety of health disorders. Some of these can start at infancy or early childhood.
What is the function of PTEN?
The PTEN gene provides instructions for making an enzyme that is found in almost all tissues in the body. The enzyme acts as a tumor suppressor, which means that it helps regulate cell division by keeping cells from growing and dividing (proliferating) too rapidly or in an uncontrolled way.
What is PTEN gene mutation?
How is PTEN mutated?
PHTS is caused by alterations, also known as “mutations,” of the PTEN gene on chromosome 10. In some cases, all or part of the gene is deleted. The condition can be inherited or caused by “new” mutations in one of the father’s sperm, mother’s eggs, or in a cell of the developing fetus.
How is PTEN activated?
PTEN works in direct opposition to PI3K, dephosphorylating PIP3 to PIP2. AKT binds to PIP3 and is activated by phosphorylation on threonine (T)308 by PDK1 and serine (S)473 by mTORC2. AKT phosphorylates and inactivates many downstream targets, resulting in increased cellular survival and proliferation.
