DISEASES

Disease-gene associations mined from literature

Literature associating MARCHF6 and familial adult myoclonic epilepsy

MARCHF6 [ENSP00000274140]

E3 ubiquitin-protein ligase MARCHF6; E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation . Promotes ubiquitination of DIO2, leading to its degradation . Promotes ubiquitination of SQLE, 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 .

Synonyms:  MARCHF6,  MARCHF6p,  hMARCHF6,  A0A0B4J206,  D6RHY7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM