FAM20B disease associations
FAM20B [ENSP00000263733]
Glycosaminoglycan xylosylkinase; Responsible for the 2-O-phosphorylation of xylose in the glycosaminoglycan-protein linkage region of proteoglycans thereby regulating the amount of mature GAG chains. Sulfated glycosaminoglycans (GAGs), including heparan sulfate and chondroitin sulfate, are synthesized on the so-called common GAG-protein linkage region (GlcUAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser) of core proteins, which is formed by the stepwise addition of monosaccharide residues by the respective specific glycosyltransferases. Xylose 2-O- phosphorylation may influence the catalytic activity of B3GAT3 (GlcAT- I) which completes the precursor tetrasaccharide of GAG-protein linkage regions on which the repeating disaccharide region is synthesized. ; Belongs to the FAM20 family.
Synonyms: FAM20B, FAM20Bp, hFAM20B, A0A024R918, O75063 ...