gyltl1b antibody, gyltl1b-b antibody, mdc1d antibody, MDC1D antibody, MDDGA6 antibody, MDDGB6 antibody, BPFD36 antibody, Gyltl1a antibody, Mbp-1 antibody, Mbp1 antibody, enr antibody, fg antibody, froggy antibody, mKIAA0609 antibody, myd antibody, NV15834 antibody, DKFZp459G0120 antibody, LARGE xylosyl- and glucuronyltransferase 1 L homeolog antibody, LARGE xylosyl- and glucuronyltransferase 1 antibody, glycosyltransferase-like protein LARGE1 antibody, like-glycosyltransferase antibody, large1.L antibody, LARGE1 antibody, Large1 antibody, large1 antibody, LOC100118066 antibody, LARGE antibody, Large antibody
背景
LARGE1 serves as a glycosyltransferase which participates in glycosylation of the muscle membrane protein alpha-dystroglycan. Mutations of LARGE1 lead to hypoglycosylation of alpha-dystroglycan and cause congenital muscular dystrophy (MDC1D) associated with severe mental retardation. Altered alpha-dystroglycan glycosylation may also play a role in cancer, as hypoglycosylation of the protein and loss of laminin binding have been demonstrated in invasive carcinoma cells.