Reactivities: | Human |
Presku: | AAP63938 |
Size: | 100ug |
Weight: | 28kDa |
Gene: | 5373 |
Format: | Lyophilized powder |
Target: | The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. |
Alternative names: | CDG1; CDG1a; CDGS |