Background of the antigen
Glycosyltransferases that mediate the regio- and stereoselective transfer of sugars, such as the fucosyltransferases, determine cell surface-carbohydrate profiles, which is an essential interface for biological recognition processes. GTDC1 (Glycosyltransferase-like domain-containing protein 1), also known as Mat-Xa, is a 458 amino acid protein belonging to the glycosyltransferase 1 family. GTDC1 is ubiquitously expressed, with highest levels found in peripheral blood leukocytes, spleen, lung and testis.An extremely rare recessive genetic disorder, Alstré°‰ syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.
