Primary Information |
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| BoMiProt ID | Bomi2497 |
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| Protein Name | Phosphomannomutase 2 |
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| Organism | Bos taurus |
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| Uniprot ID | Q3SZJ9 |
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| Milk Fraction | Exosome |
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| Ref Sequence ID | NP_001030267.1 |
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| Aminoacid Length | 246 |
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| Molecular Weight | 27997 |
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| FASTA Sequence |
Download |
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| Gene Name | PMM2 |
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| Gene ID | 510978 |
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| Protein Existence Status | Reveiwed:Experimental evidence at transcript level |
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Secondary Information |
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| PTMs | N-acetylation at Alanine,Phosphortylation |
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Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
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| Predicted Disorder Regions | NA |
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| DisProt Annotation | |
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| TM Helix Prediction | No TM helices |
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| Significance of PTMs | phosphorylation of PMM2 by this kinase completely eliminates activity both in the absence and in the presence of insulin. |
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| Additional Comments | Phosphomannomutase (PMM2, Mannose-6-P--> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. |
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| Bibliography | Freeze HH. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004. PMID: 19339218; PMCID: PMC2783247. |
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