Homo sapiens MAGE family member L2 (MAGEL2), RefSeqGene (LRG_1046) on - Nucleotide

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Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes. [Am J Hum Genet. 2024]
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes.
Heimdörfer D, Vorleuter A, Eschlböck A, Spathopoulou A, Suarez-Cubero M, Farhan H, Reiterer V, Spanjaard M, Schaaf CP, Huber LA, et al. Am J Hum Genet. 2024 Jul 11; 111(7):1383-1404. Epub 2024 Jun 21.
Cryo-EM structure of the KLHL22 E3 ligase bound to an oligomeric metabolic enzyme. [Structure. 2023]
Cryo-EM structure of the KLHL22 E3 ligase bound to an oligomeric metabolic enzyme.
Teng F, Wang Y, Liu M, Tian S, Stjepanovic G, Su MY. Structure. 2023 Nov 2; 31(11):1431-1440.e5. Epub 2023 Oct 2.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome. [Dis Model Mech. 2023]
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Reznik DL, Yang MV, Albelda de la Haza P, Jain A, Spanjaard M, Theiss S, Schaaf CP, Malovannaya A, Strong TV, Veeraragavan S, et al. Dis Model Mech. 2023 Feb 1; 16(2). Epub 2023 Feb 3.

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Nucleotide