Disease-gene associations mined from literature

Literature associating MAGEL2 and early infantile epileptic encephalopathy 11

MAGEL2 [ENSP00000433433]

Necdin-like protein 1; Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys- 63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity); MAGE family

Synonyms:  MAGEL2,  MAGEL2p,  hMAGEL2,  H0YDD5,  Q05BN9 ...

Linkouts:  STRING  Pharos  UniProt