Syntaxin Binding Protein 2 (STXBP2)

STXBP2 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. Sequence analysis of a full-length cDNA revealed that it encodes a polypeptide of 593 amino acids, which is most closely related to mouse unc18b (95% identical) and less closely related to unc18a (64% identical) and unc18c (48% identical). UNC18B is expressed predominantly as a 2.4-kb message in placenta, lung, liver, kidney, and pancreas, as well as in peripheral blood lymphocytes.