Article
Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
Biochimica et biophysica acta - 1 Mar 2009
Pohl Sandra, Tiede Stephan, Castrichini Monica, Cantz Michael, Gieselmann Volkmar, Braulke Thomas
Abstract excerpt
The N-Acetylglucosaminyl-1-phosphotransferase plays a key role in the generation of mannose 6-phosphate (M6P) recognition markersessential for efficient transport of lysosomal hydrolases to lysosomes. The phosphotransferase is composed of six subunits (alpha2, beta2, gamma2). The alpha- and beta-subunits are catalytically active and encoded by a single gene, GNPTAB, whereas the gamma-subunit encoded by GNPTG is...
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