RecName: Full=MAU2 chromatid cohesion factor homolog; Short=MAU-2; Alt - Protein

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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome. [Cell Rep. 2020]
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, et al. Cell Rep. 2020 May 19; 31(7):107647.
Human cohesin compacts DNA by loop extrusion. [Science. 2019]
Human cohesin compacts DNA by loop extrusion.
Kim Y, Shi Z, Zhang H, Finkelstein IJ, Yu H. Science. 2019 Dec 13; 366(6471):1345-1349. Epub 2019 Nov 28.
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction. [Eur J Hum Genet. 2012]
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D, Hullings M, Gil-Rodríguez MC, Fincher CT, Mallozzi MB, Loy E, Albrecht M, Kaur M, Limon J, Rampuria A, et al. Eur J Hum Genet. 2012 Mar; 20(3):271-6. Epub 2011 Sep 21.

RefSeq protein isoforms
See 11 reference sequence protein isoforms for the MAU2 gene.

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Q9Y6X3 [Domain Mapping of Disease Mut...]
Q9Y6X3
Domain Mapping of Disease Mutations
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Protein