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UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase

Pronunciation: a-se'til-glu'ko-sam'en-liso-som'al en'zim, a-se'til-glu'ko-sam'in-il-fos'fo-trans'fer-as

Definition: An enzyme that participates in the posttranslational modification of a number of lysosomal proteins; a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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