rs1226309530
This variant is located in the CD3G gene.
▶ClinVar annotation
Combined immunodeficiency due to CD3gamma deficiency
View on ClinVar →About CD3G
The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
View all CD3G variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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