DISEASES

Disease-gene associations mined from literature

Literature associating GNPTG and spondylometaphyseal dysplasia Kozlowski type

GNPTG [ENSP00000204679]

N-acetylglucosamine-1-phosphotransferase subunit gamma; 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.

Synonyms:  GNPTG,  A0A087WWA2,  E9PQQ5,  H0YEA7,  Q9UJJ9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM