GNPTG(redirected from RJD9)
GNPTGA gene on chromosome 16p13.3 that encodes the gamma subunit of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of 2 alpha, 2 beta and 2 gamma subunits. In the Golgi apparatus, GNPTG catalyses the first step in the synthesis of mannose 6-phosphate recognition markers on oligosaccharides of lysosomal enzyme, which are essential for lysosomal enzyme-targeted trafficking.
GNPTG mutations are linked to mucolipidosis IIIC.
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