| Entrez gene ID | | 84572 |
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| Official gene symbol | | GNPTG |
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| Full name | | N-acetylglucosamine-1-phosphate transferase, gamma subunit |
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| Aliases | | ,C16orf27,GNPTAG,LP2537,RJD9, |
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| Gene summary | | This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma. |
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| Location | | Chromosome: 16 Locus: 16p13.3 |
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| Gene position | | 1401900 - 1413352 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 11453 bp |
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| Gene sequence |
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| OMIM ID | | 607838 |
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