SIT1
Description
The SIT1 (signaling threshold regulating transmembrane adaptor 1) is a protein-coding gene located on chromosome 9.
SIT1, or Signaling threshold-regulating transmembrane adapter 1, is a protein encoded by the SIT1 gene in humans.
SIT1 negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells, playing a role in the positive selection of T-cells.
SIT1 is also known as SIT, SIT-R.
Associated Diseases
- common variable immunodeficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- immunodeficiency 72 with autoinflammation
- autoimmune lymphoproliferative syndrome
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- short-limb skeletal dysplasia with severe combined immunodeficiency
- severe combined immunodeficiency due to LAT deficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 105
- immunodeficiency 18
- immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
- lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- severe combined immunodeficiency due to CARD11 deficiency
- inborn error of immunity
- autoimmune lymphoproliferative syndrome type 2A
- autoimmune lymphoproliferative syndrome type 4
- combined immunodeficiency with skin granulomas
- reticular dysgenesis
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- severe combined immunodeficiency due to CD70 deficiency
