Gene Detail


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Gene Symbol SH2D1A
Synonyms DSHP | EBVS | IMD5 | LYP | MTCP1 | SAP | SAP/SH2D1A | XLP | XLPD | XLPD1
Gene Description SH2D1A, SH2 domain containing 1A, is an adaptor for signaling lymphocytic activation molecule (SLAM) receptor proteins, and plays a role in NK and T-cell activation (PMID: 26682762). Germline mutations in SH2D1A have been observed in X-linked lymphoproliferative syndrome (PMID: 28267077, PMID: 29649976).
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