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    For Research Use Only. Not For Clinical Use.


    MS4A1 (Membrane Spanning 4-Domains A1) is a Protein Coding gene. Diseases associated with MS4A1 include Immunodeficiency, Common Variable, 5 and Common Variable Immunodeficiency. Among its related pathways are B Cell Development Pathways and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include epidermal growth factor receptor binding and MHC class II protein complex binding.
    The protein encoded by this gene 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.
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