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
- Schaaf-Yang syndrome
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Prader-Willi syndrome due to imprinting mutation
- MAGEL2-related Prader-Willi-like syndrome
- Prader-Willi syndrome
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
