DISEASES

Disease-gene associations mined from literature

Literature associating GNPTG and autosomal recessive disease

GNPTG [ENSP00000204679]

N-acetylglucosamine-1-phosphate transferase, gamma subunit; Non-catalytic subunit of the N-acetylglucosamine-1- phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine- 1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors; MRH domain containing

Synonyms:  GNPTG,  E9PQQ5,  GNPTG-001,  GNPTG-002,  GNPTG-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM