CD3 delta 分子别名
CD3 delta 分子背景
CD3D is also known as CD3-DELTA, T3D, and is a single-pass type I membrane protein. CD3D is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. Defects in CD3D cause severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T-/B+/NK+ SCID) which is a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.
CD3 delta 参考文献
- Gil J, et al., 2011, J Clin Invest, 121(10):3872-6.
- Lu X, et al.,2011, Hematology, 16(3):185-9.
- Kim ST, et al., 2010, J Immunol, 185(5):2951-9.
- Holst, J. et al., 2008, Nat Immunol, 9 (6): 658-66.