TESPA1
Description
The TESPA1 (thymocyte expressed, positive selection associated 1) is a protein-coding gene located on chromosome 12.
TESPA1 is a protein encoded by the TESPA1 gene in humans. It is expressed in thymocytes and plays a role in positive selection during T-cell development.
TESPA1 is essential for the late stages of thymocyte development, contributing to the maturation of T-cells. It plays a role in the activation of ERK and NFAT signaling pathways triggered by T-cell antigen receptor (TCR), potentially acting as a scaffolding protein that facilitates the assembly of the LAT signalosome in thymocytes. TESPA1 may also regulate inositol 1,4,5-trisphosphate receptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptake through the mitochondria-associated endoplasmic reticulum membrane (MAM) compartment.
TESPA1 is also known as HSPC257, ITPRID3, KIAA0748.
Associated Diseases
- childhood onset asthma
- asthma
- allergic asthma
- common variable immunodeficiency
- combined immunodeficiency with skin granulomas
- severe combined immunodeficiency due to CARD11 deficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- short-limb skeletal dysplasia with severe combined immunodeficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 18
- reticular dysgenesis
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 72 with autoinflammation
- immunodeficiency 105
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
