MAGEL2


Description

The MAGEL2 (MAGE family member L2) is a protein-coding gene located on chromosome 15.

MAGEL2 is thought to enhance the activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases by potentially recruiting and stabilizing the Ubl-conjugating enzyme (E2) at the E3:substrate complex. It plays a role in retrograde transport through its interaction with VPS35. MAGEL2 localizes to retromer-containing endosomes and, in collaboration with TRIM27, promotes the formation of ‘Lys-63‘-linked polyubiquitin chains at ‘Lys-220‘ of WASHC1, thereby stimulating endosomal F-actin assembly. It regulates the circadian clock by suppressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer, leading to increased cytoplasmic accumulation of CLOCK.

MAGEL2 is also known as NDNL1, PWLS, SHFYNG, nM15.

Associated Diseases


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