MAGT1 Rabbit pAb

This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. Synonyma: IAP, XMEN, MRX95, OST3B, CDG1CC, PRO0756, SLC58A1, bA217H1.1, MAGT1