Quote STXBP2 antibody [N2C1], Internal
This gene encodes a member of the STXBP/unc-18/SEC1 family. These genes are conserved across species from yeast to man, and are believed to be involved in protein trafficking from the golgi apparatus to the plasma membrane. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
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Reference:
GTX103111-S
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