deficiency of n-acetylglucosamine-1-phosphotransferase Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. (Human Phenotype Ontology, HP_0003264)
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1 genes associated with the deficiency of n-acetylglucosamine-1-phosphotransferase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits