Phosphomannomutase
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
| - | + | ||
| + | <StructureSection load='2fue' size='350' side='right' caption='Human phosphomannomutase 1 complex with α-D-mannose-1-phosphate and Mg+2 ion (green) (PDB entry [[2fue]])' scene=''> | ||
== Function == | == 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. | ||
| Line 5: | Line 6: | ||
== Disease == | == Disease == | ||
Mutations in PMM2 cause carbohydrate-deficient glycoprotein syndrome type 1 (Jaeken syndrome)<ref>PMID:9140401</ref>. | Mutations in PMM2 cause carbohydrate-deficient glycoprotein syndrome type 1 (Jaeken syndrome)<ref>PMID:9140401</ref>. | ||
| + | |||
| + | == Structural highlights == | ||
| + | |||
| + | </StructureSection> | ||
== 3D Structures of phosphomannomutase == | == 3D Structures of phosphomannomutase == | ||
Revision as of 10:25, 29 June 2016
| |||||||||||
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
