Disease-gene associations mined from literature

Literature associating M6PR and lysosomal and lipase deficiency

M6PR [ENSP00000000412]

Mannose-6-phosphate receptor (cation dependent); 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; MRH domain containing

Synonyms:  M6PR,  M6PRp,  hM6PR,  F5GXE0,  F5GXU0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM