Phosphomannomutase
From Proteopedia
(Difference between revisions)
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{{STRUCTURE_1pcj| PDB=1pcj | SIZE=400| SCENE= |right|CAPTION=Phosphomannomutase 1 complex with α-D-mannose-1-phosphate and Zn+2 ion (grey), [[1pcj]] }} | {{STRUCTURE_1pcj| PDB=1pcj | SIZE=400| SCENE= |right|CAPTION=Phosphomannomutase 1 complex with α-D-mannose-1-phosphate and Zn+2 ion (grey), [[1pcj]] }} | ||
| - | + | == Function == | |
'''Phosphomannomutase''' (PMM) catalyzes the conversion of α-D-mannose 1-phosphate to D-mannose 6-phosphate. PMM participates in fructose and mannose metabolism. | '''Phosphomannomutase''' (PMM) catalyzes the conversion of α-D-mannose 1-phosphate to D-mannose 6-phosphate. PMM participates in fructose and mannose metabolism. | ||
| - | + | == Disease == | |
| + | Mutations in PMM2 cause carbohydrate-deficient glycoprotein syndrome type 1 (Jaeken syndrome)<ref>PMID:9140401</ref>. | ||
== 3D Structures of phosphomannomutase == | == 3D Structures of phosphomannomutase == | ||
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**[[3uw2]] – PMM/PGM PGM domain + phosphate – ''Burkholderia thailandensis'' | **[[3uw2]] – PMM/PGM PGM domain + phosphate – ''Burkholderia thailandensis'' | ||
}} | }} | ||
| + | == References == | ||
| + | <references/> | ||
[[Category:Topic Page]] | [[Category:Topic Page]] | ||
Revision as of 10:06, 29 June 2016
Contents |
Function
Phosphomannomutase (PMM) catalyzes the conversion of α-D-mannose 1-phosphate to D-mannose 6-phosphate. PMM participates in fructose and mannose metabolism.
Disease
Mutations in PMM2 cause carbohydrate-deficient glycoprotein syndrome type 1 (Jaeken syndrome)[1].
3D Structures of phosphomannomutase
Updated on 29-June-2016
References
- ↑ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet. 1997 May;16(1):88-92. PMID:9140401 doi:10.1038/ng0597-88
