DISEASES

Disease-gene associations mined from literature

Literature associating M6PR and neuronal ceroid lipofuscinosis

M6PR [ENSP00000000412]

Cation-dependent 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.

Synonyms:  M6PR,  M6PRp,  hM6PR,  F5GX30,  F5GXE0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM