Disease-gene associations mined from literature

Literature associating NAGPA and stuttering

NAGPA [ENSP00000310998]

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P- mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N- acetylglucosaminyltransferases.

Synonyms:  NAGPA,  K7EJ25,  K7EL75,  NAGPA-001,  NAGPA-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM