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- Table of Contents
Facts about Mannose-1-phosphate guanyltransferase alpha.
| Human | |
|---|---|
| Gene Name: | GMPPA |
| Uniprot: | Q96IJ6 |
| Entrez: | 29926 |

| Belongs to: |
|---|
| transferase hexapeptide repeat family |

EC 2.7.7; EC 2.7.7.13; GDP-mannose pyrophosphorylase Amannose-1-phosphate guanyltransferase alpha; GTP-mannose-1-phosphate guanylyltransferase alpha; mannose-1-phosphate guanylyltransferase (GDP)
Mass (kDA):
46.291 kDA

| Human | |
|---|---|
| Location: | 2q35 |
| Sequence: | 2; NC_000002.12 (219498891..219506989) |
Expressed in fibroblasts (at protein level).
Cytoplasm. Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.






PMID: 24035193 by Koehler K., et al. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.