DISEASES

Disease-gene associations mined from literature

Literature associating GNPTAB and autosomal recessive disease

GNPTAB [ENSP00000299314]

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment; EF-hand domain containing

Synonyms:  GNPTAB,  DKFZP762B226,  F8VQW2,  H0YIE6,  H0YIU2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM