disease:Defects in CD247 are a cause of primary T-cell immunodeficiency [MIM:610163]. Affected individuals suffer of recurrent infections. Patients T-cell counts are very low and B-cell counts are normal. ,domain:The ITAM domains mediate interaction with SHB. ,function:Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering. ,online information:CD247 mutation db ,PTM:Phosphorylated on Tyr residues after T-cell receptor triggering. ,similarity:Belongs to the CD3Z/FCER1G family. ,similarity:Contains 3 ITAM domains. ,subunit:The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma , delta , epsilon , zeta , and eta. CD3-zeta forms either homodimers or heterodimers with CD3-eta. Interacts with SLA and SLA2. Interacts with DOCK2 and TRAT1. Interacts with HIV-1 Nef protein. Interacts with SHB. ,
展开内容