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This Human PMM2 recombinant protein was produced in E.coli, where the gene sequence encoding Human PMM2 (1-246aa) was expressed with the N-terminal GST tag. The purity of this PMM2 protein was greater than 90% by SDS-PAGE.One of the primary functions of PMM2 is to catalyze the isomerization reaction between mannose-6-phosphate and mannose-1-phosphate. This reaction is a crucial step in the mannose metabolism pathway, generating mannose-1-phosphate, which is utilized in the synthesis of various important glycoproteins and sugar molecules. PMM2 mediates the synthesis and metabolism of mannose, which is vital for multiple biological processes. Glycoproteins are a class of proteins with attached sugar molecules, and they play roles in cell signaling, cell adhesion, immune system function, and more. Mutations in PMM2 are associated with a genetic disorder known as Phosphomannomutase 2 deficiency (PMM2-CDG). This is a rare metabolic disorder that results in abnormal glycoprotein synthesis, affecting the function of various organs and systems, including the nervous system, muscular system, immune system, and others. The symptoms and severity of PMM2-CDG can vary among individuals.
This Human PMM2 recombinant protein was produced in E.coli, where the gene sequence encoding Human PMM2 (1-246aa) was expressed with the N-terminal GST tag. The purity of this PMM2 protein was greater than 90% by SDS-PAGE.One of the primary functions of PMM2 is to catalyze the isomerization reaction between mannose-6-phosphate and mannose-1-phosphate. This reaction is a crucial step in the mannose metabolism pathway, generating mannose-1-phosphate, which is utilized in the synthesis of various important glycoproteins and sugar molecules. PMM2 mediates the synthesis and metabolism of mannose, which is vital for multiple biological processes. Glycoproteins are a class of proteins with attached sugar molecules, and they play roles in cell signaling, cell adhesion, immune system function, and more. Mutations in PMM2 are associated with a genetic disorder known as Phosphomannomutase 2 deficiency (PMM2-CDG). This is a rare metabolic disorder that results in abnormal glycoprotein synthesis, affecting the function of various organs and systems, including the nervous system, muscular system, immune system, and others. The symptoms and severity of PMM2-CDG can vary among individuals.
| Cat.No | ACP03459 | Target Name | PMM2 |
|---|---|---|---|
| Target Synonyms | AI585868; BOS_22465; C86848; CDG 1; CDG1; CDG1a; CDGS; MGC127449; Phosphomannomutase 2; PMM 2; Pmm2; PMM2_HUMAN | Form | Liquid or Lyophilized powder |
| Expression System | E.coli | Expression Range | 1-246aa |
| Mol Weight | 55.0kDa | Protein Length | Full length |
| Purity | Greater than 90% as determined by SDS-PAGE. | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | O15305 |
|---|
Uniprot Id
O15305
Target Species
Human
Target Name
PMM2
Target Full Name
Phosphomannomutase 2
Target Function
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
Target Involvement
Congenital disorder of glycosylation 1A (CDG1A)
Target Subcellular Location
Cytoplasm.
Target Protein Families
Eukaryotic PMM family
Target Research Area
Signal Transduction
Target Synonyms
AI585868; BOS_22465; C86848; CDG 1; CDG1; CDG1a; CDGS; MGC127449; Phosphomannomutase 2; PMM 2; Pmm2; PMM2_HUMAN
Target Background
The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.
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