DISEASES

Disease-gene associations mined from literature

Literature associating MARCHF1 and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

MARCHF1 [ENSP00000427223]

E3 ubiquitin-protein ligase MARCHF1; E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system. ECO:0000269|PubMed:18305173, ECO:0000269|PubMed:18389477,

Synonyms:  MARCHF1,  MARCHF1p,  hMARCHF1,  B7Z739,  D6REN1 ...

Linkouts:  STRING  Pharos  UniProt