RecName: Full=Phosphomannomutase 2; Short=PMM 2

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Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. [Mol Cell Biol. 2006]
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality.
Thiel C, Lübke T, Matthijs G, von Figura K, Körner C. Mol Cell Biol. 2006 Aug; 26(15):5615-20.
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones. [Hum Mutat. 2022]
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Segovia-Falquina C, Vilas A, Leal F, Del Caño-Ochoa F, Kirk EP, Ugarte M, Ramón-Maiques S, Gámez A, Pérez B. Hum Mutat. 2022 Oct; 43(10):1430-1442. Epub 2022 Jul 16.
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. [Nat Med. 2011]
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.
Schneider A, Thiel C, Rindermann J, DeRossi C, Popovici D, Hoffmann GF, Gröne HJ, Körner C. Nat Med. 2011 Dec 11; 18(1):71-3. Epub 2011 Dec 11.

RefSeq protein isoforms
See 3 reference sequence protein isoforms for the Pmm2 gene.

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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Mouse Genome Informatics (MGI) [Mouse Genome Informatics (MGI)]
Mouse Genome Informatics (MGI)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
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Reactome
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