DISEASES

Disease-gene associations mined from literature

Literature associating LAT and combined T cell and B cell immunodeficiency

LAT [ENSP00000378845]

Linker for activation of T-cells family member 1; Required for TCR (T-cell antigen receptor)- and pre-TCR- mediated signaling, both in mature T-cells and during their development. Involved in FCGR3 (low affinity immunoglobulin gamma Fc region receptor III)-mediated signaling in natural killer cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Couples activation of these receptors and their associated kinases with distal intracellular events such as mobilization of intracellular calcium stores, PKC activation, MAPK activation or cytoskeletal reorganization through the recruitment of PLCG1, GRB2, GRAP2, and other signaling molecules.

Synonyms:  LAT,  A0A024QZD6,  A0A1W2PQT7,  C7C5T5,  H3BQD8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM