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.
应用类型
FC (QC tested), WB
免疫原
Recombinant fragment of human LARGE1 (amino acids 35-142)
来源宿主
小鼠
反应性
Human
保存建议
Store at 2-8°C. Do not freeze. Do not use after expiration date stamped on the label.
