The GIMAP5 gene is located on chromosome 7q36.1 in humans . The gene encodes a protein that is part of the GIMAP family, which is evolutionarily conserved and involved in various immune functions . The GIMAP family proteins are characterized by their ability to bind GDP/GTP and are predominantly expressed in cells of the hematopoietic system .
GIMAP5 plays a crucial role in the survival and maintenance of T lymphocytes. In the BioBreeding diabetes-prone (BB-DP) strain of rats, a mutation in the GIMAP5 gene leads to a profound loss of T lymphocytes in secondary lymphoid organs . This discovery highlighted the importance of GIMAP5 in immune function and led to the identification of the GIMAP family of proteins .
Research has shown that GIMAP5 is critical for the survival of peripheral T-cells, hematopoietic stem cells, and progenitor cells . Deficiency in GIMAP5 can lead to a loss of immunological tolerance, which is associated with autoimmune diseases such as systemic lupus erythematosus and type I diabetes .
Polymorphisms in the human GIMAP5 gene have been linked to autoimmune diseases, highlighting its clinical significance . Understanding the function and regulation of GIMAP5 can provide insights into the development of therapeutic strategies for autoimmune diseases and other immune-related disorders.