Disease-gene associations mined from literature

Literature associating CD3G and autosomal recessive chronic granulomatous disease cytochrome b-positive type III

CD3G [ENSP00000431445]

T-cell surface glycoprotein CD3 gamma chain; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways. In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface. Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G.

Synonyms:  CD3G,  CD3Gp,  hCD3G,  A8MUH3,  B0AZV4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM