DISEASES

Disease-gene associations mined from literature

Literature associating MARCH1 and multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

MARCH1 [ENSP00000427223]

Membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase; 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; Membrane associated ring-CH-type fingers

Synonyms:  MARCH1,  MARCH1p,  hMARCH1,  B7Z739,  D6REN1 ...

Linkouts:  STRING  Pharos  UniProt