N-acetylglucosamine-1-phosphate transferase
From Wikipedia, the free encyclopedia
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N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
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| Identifiers | |
| Symbol | GNPTAB |
| Alt. Symbols | GNPTA |
| Entrez | 79158 |
| HUGO | 29670 |
| OMIM | 607840 |
| RefSeq | NM_024312 |
| UniProt | Q3T906 |
| Other data | |
| Locus | Chr. 12 q23.3 |
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N-acetylglucosamine-1-phosphate transferase, gamma subunit
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| Identifiers | |
| Symbol | GNPTG |
| Alt. Symbols | GNPTAG |
| Entrez | 84572 |
| HUGO | 23026 |
| OMIM | 607838 |
| RefSeq | NM_032520 |
| UniProt | Q9UJJ9 |
| Other data | |
| Locus | Chr. 16 p13.3 |
N-acetylglucosamine-1-phosphate transferase is a transferase enzyme.
It is associated with the following conditions:[1][2]
- mucolipidosis II alpha/beta (I-cell disease) - GNPTAB
- mucolipidosis III alpha/beta (pseudo-Hurler polydystrophy) - GNPTAB
- mucolipidosis III gamma - GNPTG
[edit] References
[edit] External links
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