Disease-gene associations mined from literature

Literature associating IGF2R and lysosomal and lipase deficiency

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.

Synonyms:  IGF2R,  IGF2Rp,  hIGF2R,  P11717,  S4R328 ...

Linkouts:  STRING  Pharos  UniProt  OMIM