Literature associating MARCH6 and familial adult myoclonic epilepsy 7
Membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that promotes ubiquitination of DIO2, leading to its degradation. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1; Membrane associated ring-CH-type fingers
Synonyms: MARCH6, MARCH6p, hMARCH6, D6RHY7, O60337 ...