DISEASES

Disease-gene associations mined from literature

Literature associating MARCH3 and Bardet-Biedl syndrome 7

MARCH3 [ENSP00000309141]

Membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase which may be involved in endosomal trafficking. 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; Membrane associated ring-CH-type fingers

Synonyms:  MARCH3,  MARCH3p,  hMARCH3,  B9EJE7,  Q86UD3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM