DISEASES

Disease-gene associations mined from literature

Literature associating IGF2R and progressive myoclonus epilepsy 4

IGF2R [ENSP00000349437]

Cation-independent mannose-6-phosphate receptor; Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6- phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation, by binding DPP4; CD molecules

Synonyms:  IGF2R,  IGF2Rp,  hIGF2R,  A0N9R6,  A0N9R7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM