PMM2 polyclonal antibody (A01)
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Specifications
Product Description
Mouse polyclonal antibody raised against a partial recombinant PMM2.
Immunogen
PMM2 (NP_000294, 47 a.a. ~ 111 a.a) partial recombinant protein with GST tag.
Sequence
SDFEKVQEQLGNDVVEKYDYVFPENGLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSYIAKIK
Host
Mouse
Reactivity
Human
Quality Control Testing
Antibody Reactive Against Recombinant Protein.
Western Blot detection against Immunogen (33.26 KDa) .
Storage Buffer
50 % glycerol
Storage Instruction
Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.
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Applications
Western Blot (Cell lysate)
PMM2 polyclonal antibody (A01), Lot # 051219JC01 Western Blot analysis of PMM2 expression in HL-60 ( Cat # L014V1 ).Western Blot (Recombinant protein)
ELISA
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Gene Info — PMM2
Entrez GeneID
5373GeneBank Accession#
NM_000303Protein Accession#
NP_000294Gene Name
PMM2
Gene Alias
CDG1, CDG1a, CDGS
Gene Description
phosphomannomutase 2
Gene Ontology
HyperlinkGene Summary
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. [provided by RefSeq
Other Designations
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Interactomes
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Pathways
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Publication Reference
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A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
René G Feichtinger, Andreas Hüllen, Andreas Koller, Dieter Kotzot, Valerian Grote, Erdmann Rapp, Peter Hofbauer, Karin Brugger, Christian Thiel, Johannes A Mayr, Saskia B Wortmann.
EMBO Molecular Medicine 2021 Sep; 13(9):e14332.
Application:IF, Human, Human fibroblasts.
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Proteostasis regulators as potential rescuers of PMM2 activity.
Vilas A, Yuste-Checa P, Gallego D, Desviat LR, Ugarte M, Pérez-Cerda C, Gámez A, Pérez B.
Biochimica et Biophysica Acta. Molecular Basis of Disease 2020 Mar; 1866(7):165777.
Application:WB-Tr, Human, Fibroblasts.
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Pharmacological Chaperoning: A Potential Treatment For PMM2-CDG.
Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B.
Human Mutation 2017 Feb; 38(2):160.
Application:WB, Human, Human skin.
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A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
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