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Updated: Feb 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2

Klementina Fon Tacer1, Patrick Ryan Potts2

  • 1Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105-3678, U.S.A.

The Biochemical Journal
|June 20, 2017
PubMed

Insights

Melanoma antigen L2 (MAGEL2) regulates membrane protein recycling via the retromer pathway. Its dysfunction is linked to neurodevelopmental disorders like Prader-Willi Syndrome.

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Melanoma antigen L2 (MAGEL2) is a ubiquitin ligase regulator involved in endosomal sorting.
  • MAGEL2 is maternally imprinted and implicated in Prader-Willi Syndrome and Schaaf-Yang Syndrome.

Purpose of the Study:

  • To review the role of MAGEL2 in protein recycling and actin regulation.
  • To discuss the implications of MAGEL2 dysfunction in neurodevelopmental disorders.

Main Methods:

  • Literature review of MAGEL2 function.
  • Analysis of MAGEL2's role in the MUST complex (MAGEL2, USP7, TRIM27).
  • Examination of data from Magel2 knockout mouse models.

Main Results:

  • MAGEL2 is crucial for the retromer pathway, recycling membrane proteins.
  • The MUST complex regulates WASH ubiquitination and activation.
  • MAGEL2 dysfunction impacts cellular processes and is linked to PWS and SHFYNG.

Conclusions:

  • MAGEL2 is a key regulator of endosomal sorting and actin dynamics.
  • Understanding MAGEL2's function is vital for neurodevelopmental disorder research.
  • MAGEL2's role in the MUST complex highlights its importance in cellular homeostasis.
Keywords:
MAGEL2Prader–Willi Syndromeactinendosomal sortingubiquitin

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