SH2D1A cDNA
SH2D1A encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene.
Product Specifications
Product Name Alternative
DSHP, EBVS, IMD5, LYP, MTCP1, SAP, SAP/SH2D1A, XLP, XLPD, XLPD1
Chromosomal Location
Xq25
Antigen Species
Human
Vector Type
PATGen (puc19-derived cloning vector)
Sequence
Additionnal Information
Storage Conditions
Store the plasmid at -20C.
Formulation
Lyophilized
Scientific Category
Immunology
Omim
300490
NCBI Accession Number
NP_002342.1
Species
Human
Preparation
RNA Reference
NM_002351.4
DNA Size
387bp
Vector Description
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