B3GNTL1 Background Information
B3GNTL1, also known as UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like protein 1, is a 361 amino acid protein that is widely expressed and belongs to the glycosyltransferase 2 family. B3GNTL1 is involved in transferase activity, specifically transferring glycosyl groups. Glycosyltransferases constitute a large group of enzymes that are involved in a wide range of functions in all living organisms. B3GNTL1 is highly expressed in adult pancreas, moderately in kidney, spleen, thymus, prostate, testis and ovary, and weakly in small intestine, colon, peripheral blood leukocyte and liver. The B3GNTL1 gene is conserved in chimpanzee, mouse, rat, chicken, zebrafish and C. elegans, and maps to human chromosome 17q25.3. Chromosome 17 makes up over 2.5% of the human genome with about 81 million bases encoding over 1,200 genes. Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease are all associated with chromosome 17.
