DISEASES

Disease-gene associations mined from literature

Literature associating MARCH9 and Pelizaeus-Merzbacher disease

MARCH9 [ENSP00000266643]

Membrane-associated RING finger protein 9; E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. 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:  MARCH9,  MARCH9p,  hMARCH9,  Q86YJ5,  Q8N9T1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM