DISEASES

Disease-gene associations mined from literature

Literature associating MARCH6 and familial adult myoclonic epilepsy 7

MARCH6 [ENSP00000274140]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM